diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 3f4ba99e..d39a63a6 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -28162,7 +28162,7 @@ SubClassOf(obo:DOID_0051010 obo:DOID_0060307) # Class: obo:DOID_0051011 (Bryant-Li-Bhoj neurodevelopmental syndrome 1) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url: https://pubmed.ncbi.nlm.nih.gov/38678163/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK595206/") obo:IAO_0000115 obo:DOID_0051011 "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.") +AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/38678163/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK595206/") obo:IAO_0000115 obo:DOID_0051011 "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051011 "MIM:619720") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051011 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0051011 "DOID:0051011") @@ -49725,9 +49725,9 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070557 "MIM:610185") AnnotationAssertion(skos:exactMatch obo:DOID_0070557 "UMLS_CUI:C2750234") SubClassOf(obo:DOID_0070557 obo:DOID_0050997) -# Class: obo:DOID_0070558 (cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3) +# Class: obo:DOID_0070558 (autosomal recessive spinocerebellar ataxia 34) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19461874/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32808436/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/38581205/") obo:IAO_0000115 obo:DOID_0070558 "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1."@en) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19461874/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32808436/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/38581205/") obo:IAO_0000115 obo:DOID_0070558 "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1."@en) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070558 "MESH:C567690") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070558 "MIM:613227") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070558 "UMLS_CUI:C2750509") @@ -49736,16 +49736,14 @@ AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070558 "SCAR34"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070558 "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070558 "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3"@en) -AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070558 "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3"@en) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070558 "spinocerebellar ataxia, autosomal recessive 34"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070558 "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3") AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070558 "disease_ontology") AnnotationAssertion(oboInOwl:id obo:DOID_0070558 "DOID:0070558") AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070558 doid:DO_rare_slim) -AnnotationAssertion(rdfs:label obo:DOID_0070558 "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3"@en) -AnnotationAssertion(skos:exactMatch obo:DOID_0070558 "MESH:C567690") -AnnotationAssertion(skos:exactMatch obo:DOID_0070558 "MIM:613227") -AnnotationAssertion(skos:exactMatch obo:DOID_0070558 "UMLS_CUI:C2750509") -SubClassOf(obo:DOID_0070558 obo:DOID_0050997) +AnnotationAssertion(rdfs:comment obo:DOID_0070558 "Revising nomeclature 2024, OMIM update.[LS]") +AnnotationAssertion(rdfs:label obo:DOID_0070558 "autosomal recessive spinocerebellar ataxia 34"@en) +SubClassOf(obo:DOID_0070558 obo:DOID_0050950) # Class: obo:DOID_0070559 (cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4)