@@ -60016,5 +59794,5 @@
-
+
diff --git a/src/ontology/imports/chr_terms.txt b/src/ontology/imports/chr_terms.txt
index 5a71133fba..04ff8f48d2 100644
--- a/src/ontology/imports/chr_terms.txt
+++ b/src/ontology/imports/chr_terms.txt
@@ -3,8 +3,10 @@ http://purl.obolibrary.org/obo/CHR_9606-chr1 ## chromosome 1 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr10
http://purl.obolibrary.org/obo/CHR_9606-chr10 ## chromosome 10 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr10p
+http://purl.obolibrary.org/obo/CHR_9606-chr10p11.21-p12.31
http://purl.obolibrary.org/obo/CHR_9606-chr10q
http://purl.obolibrary.org/obo/CHR_9606-chr10q2
+http://purl.obolibrary.org/obo/CHR_9606-chr10q22.3-q23.3
http://purl.obolibrary.org/obo/CHR_9606-chr10q23
http://purl.obolibrary.org/obo/CHR_9606-chr10q24
http://purl.obolibrary.org/obo/CHR_9606-chr11
@@ -13,9 +15,11 @@ http://purl.obolibrary.org/obo/CHR_9606-chr11p
http://purl.obolibrary.org/obo/CHR_9606-chr11p1
http://purl.obolibrary.org/obo/CHR_9606-chr11p13
http://purl.obolibrary.org/obo/CHR_9606-chr11p15
+http://purl.obolibrary.org/obo/CHR_9606-chr11p15-p14
http://purl.obolibrary.org/obo/CHR_9606-chr11p15.4
http://purl.obolibrary.org/obo/CHR_9606-chr11q
http://purl.obolibrary.org/obo/CHR_9606-chr11q2
+http://purl.obolibrary.org/obo/CHR_9606-chr11q22.2-q22.3
http://purl.obolibrary.org/obo/CHR_9606-chr11q24
http://purl.obolibrary.org/obo/CHR_9606-chr11q24.1
http://purl.obolibrary.org/obo/CHR_9606-chr12
@@ -27,6 +31,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr12p12.1
http://purl.obolibrary.org/obo/CHR_9606-chr12q
http://purl.obolibrary.org/obo/CHR_9606-chr12q1
http://purl.obolibrary.org/obo/CHR_9606-chr12q14
+http://purl.obolibrary.org/obo/CHR_9606-chr12q15-q21.1
http://purl.obolibrary.org/obo/CHR_9606-chr13
http://purl.obolibrary.org/obo/CHR_9606-chr13 ## chromosome 13 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr13p
@@ -42,8 +47,11 @@ http://purl.obolibrary.org/obo/CHR_9606-chr14 ## chromosome 14 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr14q
http://purl.obolibrary.org/obo/CHR_9606-chr14q1
http://purl.obolibrary.org/obo/CHR_9606-chr14q11
+http://purl.obolibrary.org/obo/CHR_9606-chr14q11-q22
http://purl.obolibrary.org/obo/CHR_9606-chr14q11.2
http://purl.obolibrary.org/obo/CHR_9606-chr14q12
+http://purl.obolibrary.org/obo/CHR_9606-chr14q22-q23
+http://purl.obolibrary.org/obo/CHR_9606-chr14q24.1-q24.3
http://purl.obolibrary.org/obo/CHR_9606-chr14q3
http://purl.obolibrary.org/obo/CHR_9606-chr14q32
http://purl.obolibrary.org/obo/CHR_9606-chr14q32.2
@@ -52,6 +60,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr15 ## chromosome 15 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr15q
http://purl.obolibrary.org/obo/CHR_9606-chr15q1
http://purl.obolibrary.org/obo/CHR_9606-chr15q11
+http://purl.obolibrary.org/obo/CHR_9606-chr15q11-q13
http://purl.obolibrary.org/obo/CHR_9606-chr15q11.2
http://purl.obolibrary.org/obo/CHR_9606-chr15q13
http://purl.obolibrary.org/obo/CHR_9606-chr15q13.3
@@ -59,14 +68,18 @@ http://purl.obolibrary.org/obo/CHR_9606-chr15q14
http://purl.obolibrary.org/obo/CHR_9606-chr15q2
http://purl.obolibrary.org/obo/CHR_9606-chr15q24
http://purl.obolibrary.org/obo/CHR_9606-chr15q25
+http://purl.obolibrary.org/obo/CHR_9606-chr15q26-qter
http://purl.obolibrary.org/obo/CHR_9606-chr16
http://purl.obolibrary.org/obo/CHR_9606-chr16 ## chromosome 16 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr16p
http://purl.obolibrary.org/obo/CHR_9606-chr16p1
http://purl.obolibrary.org/obo/CHR_9606-chr16p11
http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2
+http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2-p12.2
http://purl.obolibrary.org/obo/CHR_9606-chr16p12
http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1
+http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1-p12.3
+http://purl.obolibrary.org/obo/CHR_9606-chr16p12.2-p11.2
http://purl.obolibrary.org/obo/CHR_9606-chr16p13
http://purl.obolibrary.org/obo/CHR_9606-chr16p13.1
http://purl.obolibrary.org/obo/CHR_9606-chr16p13.11
@@ -94,6 +107,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr17q2
http://purl.obolibrary.org/obo/CHR_9606-chr17q21
http://purl.obolibrary.org/obo/CHR_9606-chr17q21.3
http://purl.obolibrary.org/obo/CHR_9606-chr17q21.31
+http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2
http://purl.obolibrary.org/obo/CHR_9606-chr18
http://purl.obolibrary.org/obo/CHR_9606-chr18 ## chromosome 18 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr18p
@@ -117,14 +131,17 @@ http://purl.obolibrary.org/obo/CHR_9606-chr1p2
http://purl.obolibrary.org/obo/CHR_9606-chr1p21
http://purl.obolibrary.org/obo/CHR_9606-chr1p21.3
http://purl.obolibrary.org/obo/CHR_9606-chr1p3
+http://purl.obolibrary.org/obo/CHR_9606-chr1p32-p31
http://purl.obolibrary.org/obo/CHR_9606-chr1p35
http://purl.obolibrary.org/obo/CHR_9606-chr1p35.2
http://purl.obolibrary.org/obo/CHR_9606-chr1p36
http://purl.obolibrary.org/obo/CHR_9606-chr1q
+http://purl.obolibrary.org/obo/CHR_9606-chr1q12-q21
http://purl.obolibrary.org/obo/CHR_9606-chr1q2
http://purl.obolibrary.org/obo/CHR_9606-chr1q21
http://purl.obolibrary.org/obo/CHR_9606-chr1q21.1
http://purl.obolibrary.org/obo/CHR_9606-chr1q4
+http://purl.obolibrary.org/obo/CHR_9606-chr1q41-q42
http://purl.obolibrary.org/obo/CHR_9606-chr1q44
http://purl.obolibrary.org/obo/CHR_9606-chr2
http://purl.obolibrary.org/obo/CHR_9606-chr2 ## chromosome 2 (Human)
@@ -140,11 +157,14 @@ http://purl.obolibrary.org/obo/CHR_9606-chr20q1
http://purl.obolibrary.org/obo/CHR_9606-chr20q11
http://purl.obolibrary.org/obo/CHR_9606-chr20q11.2
http://purl.obolibrary.org/obo/CHR_9606-chr20q13
+http://purl.obolibrary.org/obo/CHR_9606-chr20q13.2-q13.3
http://purl.obolibrary.org/obo/CHR_9606-chr20q13.3
http://purl.obolibrary.org/obo/CHR_9606-chr20q13.33
http://purl.obolibrary.org/obo/CHR_9606-chr21
http://purl.obolibrary.org/obo/CHR_9606-chr21 ## chromosome 21 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr21q
+http://purl.obolibrary.org/obo/CHR_9606-chr21q22.11-q22.12
+http://purl.obolibrary.org/obo/CHR_9606-chr21q22.13-q22.2
http://purl.obolibrary.org/obo/CHR_9606-chr22
http://purl.obolibrary.org/obo/CHR_9606-chr22 ## chromosome 22 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr22q
@@ -154,9 +174,11 @@ http://purl.obolibrary.org/obo/CHR_9606-chr22q11.2
http://purl.obolibrary.org/obo/CHR_9606-chr22q13
http://purl.obolibrary.org/obo/CHR_9606-chr2p
http://purl.obolibrary.org/obo/CHR_9606-chr2p1
+http://purl.obolibrary.org/obo/CHR_9606-chr2p12-p11.2
http://purl.obolibrary.org/obo/CHR_9606-chr2p13
http://purl.obolibrary.org/obo/CHR_9606-chr2p13.2
http://purl.obolibrary.org/obo/CHR_9606-chr2p16
+http://purl.obolibrary.org/obo/CHR_9606-chr2p16.1-p15
http://purl.obolibrary.org/obo/CHR_9606-chr2p16.3
http://purl.obolibrary.org/obo/CHR_9606-chr2p2
http://purl.obolibrary.org/obo/CHR_9606-chr2p21
@@ -170,6 +192,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr2q3
http://purl.obolibrary.org/obo/CHR_9606-chr2q31
http://purl.obolibrary.org/obo/CHR_9606-chr2q31.1
http://purl.obolibrary.org/obo/CHR_9606-chr2q31.2
+http://purl.obolibrary.org/obo/CHR_9606-chr2q32-q33
http://purl.obolibrary.org/obo/CHR_9606-chr2q33
http://purl.obolibrary.org/obo/CHR_9606-chr2q33.1
http://purl.obolibrary.org/obo/CHR_9606-chr2q35
@@ -224,12 +247,16 @@ http://purl.obolibrary.org/obo/CHR_9606-chr6 ## chromosome 6 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr6p
http://purl.obolibrary.org/obo/CHR_9606-chr6p2
http://purl.obolibrary.org/obo/CHR_9606-chr6p22
+http://purl.obolibrary.org/obo/CHR_9606-chr6pter-p24
http://purl.obolibrary.org/obo/CHR_9606-chr6q
http://purl.obolibrary.org/obo/CHR_9606-chr6q1
+http://purl.obolibrary.org/obo/CHR_9606-chr6q11-q14
http://purl.obolibrary.org/obo/CHR_9606-chr6q16
+http://purl.obolibrary.org/obo/CHR_9606-chr6q24-q25
http://purl.obolibrary.org/obo/CHR_9606-chr7
http://purl.obolibrary.org/obo/CHR_9606-chr7 ## chromosome 7 (Human)
http://purl.obolibrary.org/obo/CHR_9606-chr7p
+http://purl.obolibrary.org/obo/CHR_9606-chr7p11.2-p13
http://purl.obolibrary.org/obo/CHR_9606-chr7p2
http://purl.obolibrary.org/obo/CHR_9606-chr7p22
http://purl.obolibrary.org/obo/CHR_9606-chr7p22.1
@@ -253,6 +280,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chr8p23.1
http://purl.obolibrary.org/obo/CHR_9606-chr8q
http://purl.obolibrary.org/obo/CHR_9606-chr8q1
http://purl.obolibrary.org/obo/CHR_9606-chr8q12
+http://purl.obolibrary.org/obo/CHR_9606-chr8q12.1-q21.2
http://purl.obolibrary.org/obo/CHR_9606-chr8q2
http://purl.obolibrary.org/obo/CHR_9606-chr8q21
http://purl.obolibrary.org/obo/CHR_9606-chr8q21.1
@@ -272,6 +300,8 @@ http://purl.obolibrary.org/obo/CHR_9606-chr9q21
http://purl.obolibrary.org/obo/CHR_9606-chr9q22
http://purl.obolibrary.org/obo/CHR_9606-chr9q22.3
http://purl.obolibrary.org/obo/CHR_9606-chr9q3
+http://purl.obolibrary.org/obo/CHR_9606-chr9q31.1-q31.3
+http://purl.obolibrary.org/obo/CHR_9606-chr9q33.3-q34.11
http://purl.obolibrary.org/obo/CHR_9606-chr9q34
http://purl.obolibrary.org/obo/CHR_9606-chrM
http://purl.obolibrary.org/obo/CHR_9606-chrM ## chromosome M (Human)
@@ -280,12 +310,15 @@ http://purl.obolibrary.org/obo/CHR_9606-chrX ## chromosome X (Human)
http://purl.obolibrary.org/obo/CHR_9606-chrXp
http://purl.obolibrary.org/obo/CHR_9606-chrXp1
http://purl.obolibrary.org/obo/CHR_9606-chrXp11
+http://purl.obolibrary.org/obo/CHR_9606-chrXp11.23-p11.22
http://purl.obolibrary.org/obo/CHR_9606-chrXp11.3
http://purl.obolibrary.org/obo/CHR_9606-chrXp2
http://purl.obolibrary.org/obo/CHR_9606-chrXp21
http://purl.obolibrary.org/obo/CHR_9606-chrXp22
+http://purl.obolibrary.org/obo/CHR_9606-chrXp22.13-p22.2
http://purl.obolibrary.org/obo/CHR_9606-chrXp22.3
http://purl.obolibrary.org/obo/CHR_9606-chrXq
+http://purl.obolibrary.org/obo/CHR_9606-chrXq12-q13.3
http://purl.obolibrary.org/obo/CHR_9606-chrXq2
http://purl.obolibrary.org/obo/CHR_9606-chrXq22
http://purl.obolibrary.org/obo/CHR_9606-chrXq22.3
@@ -293,41 +326,7 @@ http://purl.obolibrary.org/obo/CHR_9606-chrXq25
http://purl.obolibrary.org/obo/CHR_9606-chrXq26
http://purl.obolibrary.org/obo/CHR_9606-chrXq27
http://purl.obolibrary.org/obo/CHR_9606-chrXq27.2
+http://purl.obolibrary.org/obo/CHR_9606-chrXq27.3-q28
http://purl.obolibrary.org/obo/CHR_9606-chrXq28
http://purl.obolibrary.org/obo/CHR_9606-chrY
http://purl.obolibrary.org/obo/CHR_9606-chrY ## chromosome Y (Human)
-http://purl.obolibrary.org/obo/CHR_9606-chr10p11.21-p12.31
-http://purl.obolibrary.org/obo/CHR_9606-chr10q22.3-q23.3
-http://purl.obolibrary.org/obo/CHR_9606-chr11p15-p14
-http://purl.obolibrary.org/obo/CHR_9606-chr11q22.2-q22.3
-http://purl.obolibrary.org/obo/CHR_9606-chr12q15-q21.1
-http://purl.obolibrary.org/obo/CHR_9606-chr14q11-q22
-http://purl.obolibrary.org/obo/CHR_9606-chr14q22-q23
-http://purl.obolibrary.org/obo/CHR_9606-chr14q24.1-q24.3
-http://purl.obolibrary.org/obo/CHR_9606-chr15q11-q13
-http://purl.obolibrary.org/obo/CHR_9606-chr15q26-qter
-http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2-p12.2
-http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1-p12.3
-http://purl.obolibrary.org/obo/CHR_9606-chr16p12.2-p11.2
-http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2
-http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2
-http://purl.obolibrary.org/obo/CHR_9606-chr1p32-p31
-http://purl.obolibrary.org/obo/CHR_9606-chr1q12-q21
-http://purl.obolibrary.org/obo/CHR_9606-chr1q41-q42
-http://purl.obolibrary.org/obo/CHR_9606-chr20q13.2-q13.3
-http://purl.obolibrary.org/obo/CHR_9606-chr21q22.11-q22.12
-http://purl.obolibrary.org/obo/CHR_9606-chr21q22.13-q22.2
-http://purl.obolibrary.org/obo/CHR_9606-chr2p12-p11.2
-http://purl.obolibrary.org/obo/CHR_9606-chr2p16.1-p15
-http://purl.obolibrary.org/obo/CHR_9606-chr2q32-q33
-http://purl.obolibrary.org/obo/CHR_9606-chr6pter-p24
-http://purl.obolibrary.org/obo/CHR_9606-chr6q11-q14
-http://purl.obolibrary.org/obo/CHR_9606-chr6q24-q25
-http://purl.obolibrary.org/obo/CHR_9606-chr7p11.2-p13
-http://purl.obolibrary.org/obo/CHR_9606-chr8q12.1-q21.2
-http://purl.obolibrary.org/obo/CHR_9606-chr9q31.1-q31.3
-http://purl.obolibrary.org/obo/CHR_9606-chr9q33.3-q34.11
-http://purl.obolibrary.org/obo/CHR_9606-chrXp11.23-p11.22
-http://purl.obolibrary.org/obo/CHR_9606-chrXp22.13-p22.2
-http://purl.obolibrary.org/obo/CHR_9606-chrXq12-q13.3
-http://purl.obolibrary.org/obo/CHR_9606-chrXq27.3-q28
\ No newline at end of file
diff --git a/src/ontology/imports/go_terms.txt b/src/ontology/imports/go_terms.txt
index 3a5026e4ff..d1dc07bd89 100644
--- a/src/ontology/imports/go_terms.txt
+++ b/src/ontology/imports/go_terms.txt
@@ -25,6 +25,9 @@ http://purl.obolibrary.org/obo/GO_0000789
http://purl.obolibrary.org/obo/GO_0000790
http://purl.obolibrary.org/obo/GO_0000791
http://purl.obolibrary.org/obo/GO_0000792
+http://purl.obolibrary.org/obo/GO_0000803
+http://purl.obolibrary.org/obo/GO_0000805
+http://purl.obolibrary.org/obo/GO_0000806
http://purl.obolibrary.org/obo/GO_0000819
http://purl.obolibrary.org/obo/GO_0000820
http://purl.obolibrary.org/obo/GO_0000902
diff --git a/src/ontology/imports/ro_terms.txt b/src/ontology/imports/ro_terms.txt
index c1a221d1b3..f4109af692 100644
--- a/src/ontology/imports/ro_terms.txt
+++ b/src/ontology/imports/ro_terms.txt
@@ -1888,6 +1888,7 @@ http://purl.obolibrary.org/obo/UBERON_0004087
http://purl.obolibrary.org/obo/UBERON_0004088
http://purl.obolibrary.org/obo/UBERON_0004089
http://purl.obolibrary.org/obo/UBERON_0004099
+http://purl.obolibrary.org/obo/UBERON_0004100
http://purl.obolibrary.org/obo/UBERON_0004103
http://purl.obolibrary.org/obo/UBERON_0004105
http://purl.obolibrary.org/obo/UBERON_0004108
@@ -4891,6 +4892,9 @@ http://purl.obolibrary.org/obo/UBERON_0037458
http://purl.obolibrary.org/obo/UBERON_0037459
http://purl.obolibrary.org/obo/UBERON_0037531
http://purl.obolibrary.org/obo/UBERON_0039168
+http://purl.obolibrary.org/obo/UBERON_0039222
+http://purl.obolibrary.org/obo/UBERON_0039228
+http://purl.obolibrary.org/obo/UBERON_0039261
http://purl.obolibrary.org/obo/UBERON_1000004
http://purl.obolibrary.org/obo/UBERON_1000011
http://purl.obolibrary.org/obo/UBERON_1000021
@@ -4951,6 +4955,8 @@ http://purl.obolibrary.org/obo/UBERON_5103631
http://purl.obolibrary.org/obo/UBERON_5103635
http://purl.obolibrary.org/obo/UBERON_5106048
http://purl.obolibrary.org/obo/UBERON_5106052
+http://purl.obolibrary.org/obo/UBERON_7500062
+http://purl.obolibrary.org/obo/UBERON_7500094
http://purl.obolibrary.org/obo/UBERON_8000006
http://purl.obolibrary.org/obo/UBERON_8000007
http://purl.obolibrary.org/obo/UBERON_8300000
@@ -4993,6 +4999,8 @@ http://purl.obolibrary.org/obo/UBERON_8410050
http://purl.obolibrary.org/obo/UBERON_8410051
http://purl.obolibrary.org/obo/UBERON_8410056
http://purl.obolibrary.org/obo/UBERON_8410057
+http://purl.obolibrary.org/obo/UBERON_8420000
+http://purl.obolibrary.org/obo/UBERON_8440004
http://purl.obolibrary.org/obo/chebi#is_substituent_group_from
http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease
http://purl.obolibrary.org/obo/pato#has_cross_section
diff --git a/src/ontology/reports/mondo-edit-report.html b/src/ontology/reports/mondo-edit-report.html
index 8fa976b9e9..20321e4be5 100644
--- a/src/ontology/reports/mondo-edit-report.html
+++ b/src/ontology/reports/mondo-edit-report.html
@@ -101,28 +101,28 @@
multiple_equivalent_classes |
MONDO:0021108 |
owl:equivalentClass |
- ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid309184 |
+ 67a448f0-15c8-41ce-b57c-d687c2bf3486genid309541 |
WARN |
multiple_equivalent_classes |
MONDO:0021108 |
owl:equivalentClass |
- ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid309188 |
+ 67a448f0-15c8-41ce-b57c-d687c2bf3486genid309545 |
WARN |
multiple_equivalent_classes |
MONDO:0045024 |
owl:equivalentClass |
- ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid337982 |
+ 67a448f0-15c8-41ce-b57c-d687c2bf3486genid338540 |
WARN |
multiple_equivalent_classes |
MONDO:0045024 |
owl:equivalentClass |
- ca34b28c-5e0c-4d6c-b1a8-0bf0de7a98c2genid337986 |
+ 67a448f0-15c8-41ce-b57c-d687c2bf3486genid338544 |
WARN |
@@ -152,20 +152,6 @@
oboInOwl:hasExactSynonym |
XLOA |
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0007526 |
- oboInOwl:hasExactSynonym |
- XGPT deficiency |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0020682 |
- oboInOwl:hasExactSynonym |
- XGPT deficiency |
-
WARN |
duplicate_exact_synonym |
@@ -208,34 +194,6 @@
oboInOwl:hasExactSynonym |
Wissler-Fanconi syndrome |
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0010201 |
- oboInOwl:hasExactSynonym |
- Winchester syndrome |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0018104 |
- oboInOwl:hasExactSynonym |
- Winchester syndrome |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0006058 |
- oboInOwl:hasExactSynonym |
- Wilms tumor |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0019004 |
- oboInOwl:hasExactSynonym |
- Wilms tumor |
-
WARN |
duplicate_exact_synonym |
@@ -306,6 +264,20 @@
oboInOwl:hasExactSynonym |
von Reklinghausen disease |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0003584 |
+ oboInOwl:hasExactSynonym |
+ visual cortex disorder |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0018649 |
+ oboInOwl:hasExactSynonym |
+ visual cortex disorder |
+
WARN |
duplicate_exact_synonym |
@@ -1097,6 +1069,20 @@
oboInOwl:hasExactSynonym |
spinal dysraphism |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0012013 |
+ oboInOwl:hasExactSynonym |
+ spherophakia-brachymorphia syndrome |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0018096 |
+ oboInOwl:hasExactSynonym |
+ spherophakia-brachymorphia syndrome |
+
WARN |
duplicate_exact_synonym |
@@ -1881,6 +1867,20 @@
oboInOwl:hasExactSynonym |
primary congenital glaucoma |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0001119 |
+ oboInOwl:hasExactSynonym |
+ premature ovarian failure |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0005387 |
+ oboInOwl:hasExactSynonym |
+ premature ovarian failure |
+
WARN |
duplicate_exact_synonym |
@@ -3603,6 +3603,20 @@
oboInOwl:hasExactSynonym |
mesonephroma |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0012013 |
+ oboInOwl:hasExactSynonym |
+ mesodermal Dysmorphodystrophy, congenital |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0018096 |
+ oboInOwl:hasExactSynonym |
+ mesodermal Dysmorphodystrophy, congenital |
+
WARN |
duplicate_exact_synonym |
@@ -3736,20 +3750,6 @@
oboInOwl:hasExactSynonym |
MCD |
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0007378 |
- oboInOwl:hasExactSynonym |
- Maumenee corneal dystrophy |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0009019 |
- oboInOwl:hasExactSynonym |
- Maumenee corneal dystrophy |
-
WARN |
duplicate_exact_synonym |
@@ -4275,6 +4275,20 @@
oboInOwl:hasExactSynonym |
LPP |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0022794 |
+ oboInOwl:hasExactSynonym |
+ loss of chromosome 8 |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0700035 |
+ oboInOwl:hasExactSynonym |
+ loss of chromosome 8 |
+
WARN |
duplicate_exact_synonym |
@@ -5136,20 +5150,6 @@
oboInOwl:hasExactSynonym |
hypernephroma |
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0005803 |
- oboInOwl:hasExactSynonym |
- hyperinsulinemic hypoglycemia |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0017182 |
- oboInOwl:hasExactSynonym |
- hyperinsulinemic hypoglycemia |
-
WARN |
duplicate_exact_synonym |
@@ -5206,6 +5206,20 @@
oboInOwl:hasExactSynonym |
Hurler syndrome |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:8000010 |
+ oboInOwl:hasExactSynonym |
+ Hughes syndrome |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:8000014 |
+ oboInOwl:hasExactSynonym |
+ Hughes syndrome |
+
WARN |
duplicate_exact_synonym |
@@ -5318,6 +5332,20 @@
oboInOwl:hasExactSynonym |
hereditary ovarian cancer |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0008165 |
+ oboInOwl:hasExactSynonym |
+ hereditary ovalocytosis |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0017319 |
+ oboInOwl:hasExactSynonym |
+ hereditary ovalocytosis |
+
WARN |
duplicate_exact_synonym |
@@ -5647,6 +5675,20 @@
oboInOwl:hasExactSynonym |
gamma-sarcoglycanopathy |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0005775 |
+ oboInOwl:hasExactSynonym |
+ G6PD deficiency |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0040671 |
+ oboInOwl:hasExactSynonym |
+ G6PD deficiency |
+
WARN |
duplicate_exact_synonym |
@@ -7558,6 +7600,20 @@
oboInOwl:hasExactSynonym |
chronic inflammatory demyelinating polyneuropathy |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0022794 |
+ oboInOwl:hasExactSynonym |
+ chromosome 8 deletion |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0700035 |
+ oboInOwl:hasExactSynonym |
+ chromosome 8 deletion |
+
WARN |
duplicate_exact_synonym |
@@ -7796,20 +7852,6 @@
oboInOwl:hasExactSynonym |
Central nervous system Mixed germ cell tumor |
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0020603 |
- oboInOwl:hasExactSynonym |
- CDPXD |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0026782 |
- oboInOwl:hasExactSynonym |
- CDPXD |
-
WARN |
duplicate_exact_synonym |
@@ -8363,6 +8405,20 @@
oboInOwl:hasExactSynonym |
autosomal recessive axonal Charcot-Marie-Tooth disease type 2T |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0015129 |
+ oboInOwl:hasExactSynonym |
+ autoimmune adrenalitis |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0100480 |
+ oboInOwl:hasExactSynonym |
+ autoimmune adrenalitis |
+
WARN |
duplicate_exact_synonym |
@@ -8580,20 +8636,6 @@
oboInOwl:hasExactSynonym |
AMC |
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0007089 |
- oboInOwl:hasExactSynonym |
- Alzheimer disease type 2 |
-
-
- WARN |
- duplicate_exact_synonym |
- MONDO:0100088 |
- oboInOwl:hasExactSynonym |
- Alzheimer disease type 2 |
-
WARN |
duplicate_exact_synonym |
@@ -8664,6 +8706,20 @@
oboInOwl:hasExactSynonym |
AIP |
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0007691 |
+ oboInOwl:hasExactSynonym |
+ AIDP |
+
+
+ WARN |
+ duplicate_exact_synonym |
+ MONDO:0020347 |
+ oboInOwl:hasExactSynonym |
+ AIDP |
+
WARN |
duplicate_exact_synonym |
diff --git a/src/ontology/reports/mondo_base_current_release-report.tsv b/src/ontology/reports/mondo_base_current_release-report.tsv
new file mode 100644
index 0000000000..2c1955b594
--- /dev/null
+++ b/src/ontology/reports/mondo_base_current_release-report.tsv
@@ -0,0 +1,24928 @@
+?mondo_term ?label ?definition ?obsoletion_candidate ?obsolete
+ "disease or disorder" "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." ""
+ "disease characteristic" "An attribute of a disease." ""
+ "disease susceptibility" "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." ""
+ "obsolete 46,XX sex reversal" "" "true"
+ "obsolete 17-hydroxysteroid dehydrogenase deficiency" "" "true"
+ "adrenocortical insufficiency" "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." ""
+ "adrenal cortex disorder" "A disease involving the adrenal cortex." ""
+ "alopecia, isolated" ""
+ "genetic alopecia" "An instance of alopecia that is caused by a modification of the individual's genome." ""
+ "obsolete alopecia-mental retardation syndrome" "" "true"
+ "obsolete atypical Mycobacteriosis, familial" "" "true"
+ "obsolete bare lymphocyte syndrome" "" "true"
+ "inherited bleeding disorder, platelet-type" ""
+ "hemorrhagic disease" "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." ""
+ "inherited" "A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents." ""
+ "blood platelet disease" "Disorders caused by abnormalities in platelet count or function." ""
+ "Mendelian disease" "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." ""
+ "obsolete cerebrooculofacioskeletal syndrome" "" "true"
+ "obsolete chondrodysplasia" "" "true"
+ "obsolete choreoathetosis" "" "true"
+ "obsolete choroidal dystrophy" "" "true"
+ "colorblindness, partial" ""
+ "color vision disorder" "The absence of or defect in the perception of colors." ""
+ "classic complement early component deficiency" "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." ""
+ "complement deficiency" "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." ""
+ "obsolete coronary heart disease" "" "true"
+ "obsolete deafness, autosomal recessive" "" "true"
+ "obsolete myotonic dystrophy" "" "true"
+ "obsolete ectodermal dysplasia" "" "true"
+ "obsolete elliptocytosis" "" "true"
+ "obsolete short-rib thoracic dysplasia" "" "true"
+ "nocturnal enuresis" "Urination during sleep." ""
+ "enuresis" "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." ""
+ "infantile liver failure" ""
+ "genetic parenchymatous liver disease" ""
+ "obsolete exostoses, multiple" "" "true"
+ "obsolete familial cold autoinflammatory syndrome" "" "true"
+ "obsolete Fanconi renotubular syndrome" "" "true"
+ "obsolete epilepsy, absence" "" "true"
+ "obsolete epilepsy, hot water" "" "true"
+ "obsolete corticosterone methyloxidase deficiency" "" "true"
+ "sleep-related hypermotor epilepsy" ""
+ "frontal lobe epilepsy" "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" ""
+ "familial partial epilepsy" "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." ""
+ "obsolete fatty liver disease, nonalcoholic" "" "true"
+ "febrile seizures, familial" ""
+ "obsolete frontonasal dysplasia" "" "true"
+ "obsolete glomerulopathy with fibronectin deposits" "" "true"
+ "obsolete glucocorticoid deficiency" "" "true"
+ "obsolete hemolytic anemia, nonspherocytic" "" "true"
+ "obsolete herpes simplex encephalitis, susceptibility" "" "true"
+ "obsolete hyper-IgE recurrent infection syndrome" "" "true"
+ "obsolete hypercalciuria, absorptive" "" "true"
+ "obsolete hyperphenylalaninemia, BH4-deficient" "" "true"
+ "obsolete hyperphosphatasia with mental retardation syndrome" "" "true"
+ "obsolete hyperprolinemia" "" "true"
+ "obsolete hypomagnesemia" "" "true"
+ "hereditary hypophosphatemic rickets" "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." ""
+ "hypophosphatemic rickets" "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." ""
+ "hypothyroidism, congenital, nongoitrous" ""
+ "congenital hypothyroidism" "A thyroid hormone deficiency present from birth." ""
+ "obsolete hypouricemia, renal" "" "true"
+ "obsolete immunodeficiency with hyper-IgM" "" "true"
+ "obsolete immunoglobulin A deficiency" "" "true"
+ "obsolete invasive pneumococcal disease, recurrent isolated" "" "true"
+ "isolated congenital growth hormone deficiency" ""
+ "combined pituitary hormone deficiencies, genetic form" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." ""
+ "obsolete keratoderma, palmoplantar striate" "" "true"
+ "obsolete leukodystrophy, hypomyelinating" "" "true"
+ "obsolete macroglobulinemia, Waldenstrom" "" "true"
+ "obsolete macular dystrophy" "" "true"
+ "obsolete major affective disorder" "" "true"
+ "obsolete mandibuloacral dysplasia with lipodystrophy" "" "true"
+ "obsolete medullary cystic kidney disease" "" "true"
+ "obsolete melanoma, cutaneous malignant" "" "true"
+ "obsolete methylmalonic aciduria and homocystinuria" "" "true"
+ "microcephalic osteodysplastic primordial dwarfism" ""
+ "microcephaly" "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." ""
+ "obsolete microcephaly, primary, autosomal recessive" "" "true"
+ "isolated microphthalmia" "A microphthalmia that is not part of a larger syndrome." ""
+ "microphthalmia" "Congenital or developmental anomaly in which the eyeballs are abnormally small." ""
+ "has an isolated presentation" "An characteristic of a disease in which the disease is manifested as an isolated feature." ""
+ "obsolete molybdenum cofactor deficiency" "" "true"
+ "obsolete syndromic microphthalmia" "" "true"
+ "microvascular complications of diabetes, susceptibility" ""
+ "inherited disease susceptibility" "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." ""
+ "diabetic retinopathy" "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." ""
+ "mitochondrial complex deficiency" ""
+ "inborn mitochondrial metabolism disorder" "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." ""
+ "obsolete mitochondrial DNA depletion syndrome" "" "true"
+ "obsolete mucolipidosis" "" "true"
+ "obsolete multiple endocrine neoplasia" "" "true"
+ "mycobacterium tuberculosis, susceptibility" ""
+ "tuberculosis" "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." ""
+ "hereditary predisposition to infections" ""
+ "obsolete myopathy, myofibrillar" "" "true"
+ "obsolete myopathy, reducing body, X-linked" "" "true"
+ "obsolete nail disorder, nonsyndromic congenital" "" "true"
+ "obsolete neurodegeneration with brain iron accumulation" "" "true"
+ "neuronopathy, distal hereditary motor" ""
+ "motor neuron disorder" "A disease involving the motor neuron." ""
+ "obsolete neuropathy, hereditary sensory and autonomic" "" "true"
+ "obsolete nystagmus" "" "true"
+ "acrocephalopolysyndactyly" "A common presentation of craniosynostosis and polysyndactyly." ""
+ "acrocephalosyndactyly" "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." ""
+ "nephrolithiasis/osteoporosis, hypophosphatemic" ""
+ "osteoporosis" "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." ""
+ "obsolete Oto-palato-digital syndrome" "" "true"
+ "obsolete ovarian dysgenesis" "" "true"
+ "pelvic organ prolapse" "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." ""
+ "reproductive system disorder" "A disease involving the reproductive system." ""
+ "obsolete Griscelli syndrome" "" "true"
+ "obsolete pigmented nodular adrenocortical disease" "" "true"
+ "obsolete pituitary hormone deficiency, combined" "" "true"
+ "obsolete polydactyly, preaxial" "" "true"
+ "polymicrogyria" "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." ""
+ "syndromic intellectual disability" "A intellectual disability that is part of a larger syndrome." ""
+ "congenital nervous system disorder" "An abnormality of the nervous system that is present at birth or detected in the neonatal period." ""
+ "rare" "A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet." ""
+ "precocious puberty" "Unusually early sexual maturity." ""
+ "gonadal disorder" "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." ""
+ "disorder of development or morphogenesis" "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." ""
+ "obsolete rare endocrine growth disease" "True" "true"
+ "obsolete age-related hearing impairment" "" "true"
+ "progressive external ophthalmoplegia with mitochondrial DNA deletions" ""
+ "progressive external ophthalmoplegia" "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" ""
+ "obsolete progressive familial heart block" "" "true"
+ "obsolete pyloric stenosis, infantile" "" "true"
+ "Schistosoma mansoni infection, susceptibility" ""
+ "Schistosoma mansoni infectious disease" "An infection that is caused by Schistosoma mansoni." ""
+ "obsolete spherocytosis" "" "true"
+ "obsolete split-hand/foot malformation" "" "true"
+ "obsolete pulmonary surfactant metabolism dysfunction" "" "true"
+ "obsolete thyroid dyshormonogenesis" "" "true"
+ "obsolete thyrotoxic periodic paralysis" "" "true"
+ "obsolete trichoepithelioma, multiple familial" "" "true"
+ "obsolete trichorhinophalangeal syndrome" "" "true"
+ "obsolete tumoral calcinosis" "" "true"
+ "obsolete vertigo" "" "true"
+ "obsolete Wilms tumor" "" "true"
+ "anemia, hypochromic microcytic with iron overload" ""
+ "hypochromic microcytic anemia" "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." ""
+ "anemia, nonspherocytic hemolytic" ""
+ "congenital nonspherocytic hemolytic anemia" "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." ""
+ "obsolete apnea" "" "true"
+ "auriculocondylar syndrome" "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." ""
+ "ear malformation" ""
+ "oculo-auriculo-vertebral spectrum" ""
+ "bacteremia, susceptibility" ""
+ "bacterial infectious disease with sepsis" "An infectious disease caused by bacteria causing sepsis." ""
+ "obsolete basal ganglia calcification, idiopathic" "" "true"
+ "bifid nose" "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." ""
+ "median facial cleft" ""
+ "nose and cavum anomaly" ""
+ "genetic otorhinolaryngological malformation" ""
+ "camptodactyly syndrome, Guadalajara" ""
+ "obsolete cardioencephalomyopathy, fatal infantile" "" "true"
+ "obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome" "" "true"
+ "cerebelloparenchymal disorder" ""
+ "Chiari malformation" "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." ""
+ "obsolete cortical dysplasia, complex, with other brain malformations" "" "true"
+ "obsolete diarrhea, congenital" "" "true"
+ "reticulate pigment disorder" ""
+ "pigmentation disease" ""
+ "congenital heart defects, multiple types" ""
+ "congenital heart disease" "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." ""
+ "obsolete ectopia lentis, isolated" "" "true"
+ "obsolete emphysema" "" "true"
+ "obsolete facial paresis, hereditary congenital" "" "true"
+ "obsolete factor V and Factor VIII, combined deficiency of" "" "true"
+ "obsolete focal facial dermal dysplasia" "" "true"
+ "obsolete fundus dystrophy, pseudoinflammatory" "" "true"
+ "obsolete gastric cancer" "" "true"
+ "geleophysic dysplasia" "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." ""
+ "acromelic dysplasia" ""
+ "giant axonal neuropathy" "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." ""
+ "axonal neuropathy" "Any nerve disorder affecting the axon of a nerve." ""
+ "genetic peripheral neuropathy" "Genetic peripheral neuropathy." ""
+ "glutaric aciduria" ""
+ "metabolic disease" "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." ""
+ "obsolete hypercarotenemia and vitamin a deficiency" "" "true"
+ "obsolete hyperpigmentation, familial progressive" "" "true"
+ "obsolete hypocalcemia" "" "true"
+ "immunodeficiency-centromeric instability-facial anomalies syndrome" "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." ""
+ "autosomal recessive disease" "Autosomal recessive form of disease." ""
+ "telomere syndrome" "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." ""
+ "obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" "" "true"
+ "obsolete Kenny-Caffey syndrome" "" "true"
+ "keratosis follicularis spinulosa decalvans" "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." ""
+ "folliculitis" "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." ""
+ "keratosis" "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." ""
+ "keratosis pilaris atrophicans" "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." ""
+ "secondary ectropion" ""
+ "leukoencephalopathy, megalencephalic" ""
+ "brain disorder" "A disease affecting the brain or part of the brain." ""
+ "genetic nervous system disorder" "An instance of nervous system disease that is caused by a modification of the individual's genome." ""
+ "metaphyseal chondrodysplasia" ""
+ "Pyle disease" "Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." ""
+ "obsolete microcephalic primordial dwarfism" "" "true"
+ "" "true"
+ "familial congenital mirror movements" "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." ""
+ "mosaic variegated aneuploidy syndrome" "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." ""
+ "hereditary neoplastic syndrome" "The inherited predisposition toward getting a tumor." ""
+ "chromosomal disorder" "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" ""
+ "neoplastic syndrome" "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." ""
+ "mosaic" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism." ""
+ "obsolete multiple congenital anomalies-hypotonia-seizures syndrome" "" "true"
+ "obsolete multiple mitochondrial dysfunctions syndrome" "" "true"
+ "pregnancy loss, recurrent, susceptibility" ""
+ "obsolete premature aging syndrome" "" "true"
+ "obsolete progeroid syndrome" "" "true"
+ "polyposis" ""
+ "neoplastic polyp" ""
+ "pulmonary fibrosis and/or bone marrow failure, telomere-related" ""
+ "pulmonary fibrosis" "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." ""
+ "bone marrow disorder" "Any disease of the bone marrow." ""
+ "obsolete retinopathy" "" "true"
+ "obsolete spondylometaphyseal dysplasia" "" "true"
+ "symphalangism" ""
+ "skeletal system disorder" "A disease involving the skeletal system." ""
+ "thiamine-responsive dysfunction syndrome" ""
+ "disorder of thiamine metabolism and transport" ""
+ "transposition of the great arteries" "A congenital cardiac defect in which two heart vessels are reversed (transposed)." ""
+ "transposition of the great arteries and conotruncal cardiac anomaly" ""
+ "obsolete Trichohepatoenteric syndrome" "" "true"
+ "triglyceride storage disease" "An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride." ""
+ "inborn errors of metabolism" "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." ""
+ "lysosomal lipid storage disorder" "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." ""
+