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updated nomenclature DOID:0070558
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lschriml committed Dec 16, 2024
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Showing 1 changed file with 7 additions and 9 deletions.
16 changes: 7 additions & 9 deletions src/ontology/doid-edit.owl
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Expand Up @@ -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")
Expand Down Expand Up @@ -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")
Expand All @@ -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)

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