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fixed unpunctuated_definition for DOID:0111372, DOID:0111377, DOID:01…
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…11366, DOID:0111407, DOID:0111445, DOID:0111396, DOID:0111365, DOID:0111419
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@melodyswen
melodyswen committed Oct 17, 2019
1 parent 7fc7808 commit a048b92
Showing 1 changed file with 8 additions and 8 deletions.
16 changes: 8 additions & 8 deletions src/ontology/doid-edit.owl
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Expand Up @@ -66206,7 +66206,7 @@ SubClassOf(obo:DOID_0111364 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111365 (benign familial hematuria)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8787673"^^xsd:string) obo:IAO_0000115 obo:DOID_0111365 "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8787673"^^xsd:string) obo:IAO_0000115 obo:DOID_0111365 "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111365 "OMIM:141200"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111365 "BFH"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111365 "TMN"^^xsd:string)
Expand All @@ -66220,7 +66220,7 @@ SubClassOf(obo:DOID_0111365 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111366 (familial hepatic adenoma)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/207987"^^xsd:string) obo:IAO_0000115 obo:DOID_0111366 "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/207987"^^xsd:string) obo:IAO_0000115 obo:DOID_0111366 "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in HNF1A on chromosome 12q24.31."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111366 "OMIM:142330"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111366 "familial liver cell adenomas"^^xsd:string)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111366 "disease_ontology"^^xsd:string)
Expand Down Expand Up @@ -66300,7 +66300,7 @@ SubClassOf(obo:DOID_0111371 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111372 (autosomal dominant endosteal hyperostosis)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4942110"^^xsd:string) obo:IAO_0000115 obo:DOID_0111372 "An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12579474"^^xsd:string) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4942110"^^xsd:string) obo:IAO_0000115 obo:DOID_0111372 "An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111372 "GARD:390"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111372 "MESH:C536748"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111372 "OMIM:144750"^^xsd:string)
Expand Down Expand Up @@ -66377,7 +66377,7 @@ SubClassOf(obo:DOID_0111376 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111377 (fetal akinesia deformation sequence syndrome 1)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25537362"^^xsd:string) obo:IAO_0000115 obo:DOID_0111377 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25537362"^^xsd:string) obo:IAO_0000115 obo:DOID_0111377 "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111377 "OMIM:208150"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111377 "FADS1"^^xsd:string)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111377 "disease_ontology"^^xsd:string)
Expand Down Expand Up @@ -66692,7 +66692,7 @@ SubClassOf(obo:DOID_0111395 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111396 (congenital dyserythropoietic anemia type I)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16098079"^^xsd:string) obo:IAO_0000115 obo:DOID_0111396 "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16098079"^^xsd:string) obo:IAO_0000115 obo:DOID_0111396 "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111396 "GARD:2000"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111396 "ORDO:98869"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111396 "CDA I"^^xsd:string)
Expand Down Expand Up @@ -66855,7 +66855,7 @@ SubClassOf(obo:DOID_0111406 obo:DOID_0090001)

# Class: obo:DOID_0111407 (Fraser syndrome 2)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507"^^xsd:string) obo:IAO_0000115 obo:DOID_0111407 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/15838507"^^xsd:string) obo:IAO_0000115 obo:DOID_0111407 "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in FREM2 on chromosome13q13.3."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111407 "OMIM:617666"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111407 "FRASRS2"^^xsd:string)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111407 "disease_ontology"^^xsd:string)
Expand Down Expand Up @@ -66999,7 +66999,7 @@ SubClassOf(obo:DOID_0111418 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111419 (familial chylomicronemia due to inhibition of lipoprotein lipase activity)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6833877"^^xsd:string) obo:IAO_0000115 obo:DOID_0111419 "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/6833877"^^xsd:string) obo:IAO_0000115 obo:DOID_0111419 "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111419 "OMIM:118830"^^xsd:string)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111419 "disease_ontology"^^xsd:string)
AnnotationAssertion(oboInOwl:id obo:DOID_0111419 "DOID:0111419"^^xsd:string)
Expand Down Expand Up @@ -67311,7 +67311,7 @@ SubClassOf(obo:DOID_0111444 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111445 (progressive myoclonus epilepsy 10)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22961547"^^xsd:string) obo:IAO_0000115 obo:DOID_0111445 "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21"^^xsd:string)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/22961547"^^xsd:string) obo:IAO_0000115 obo:DOID_0111445 "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21."^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111445 "OMIM:616640"^^xsd:string)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111445 "ORDO:324290"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111445 "EPM10"^^xsd:string)
Expand Down

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