updated autosomal recessive distal hereditary motor neuronopathy 8 OMIM

DiseaseOntology · Feb 5, 2024 · 070c228 · 070c228
1 parent d139b26
commit 070c228
Showing 1 changed file with 8 additions and 7 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -62839,16 +62839,14 @@ AnnotationAssertion(rdfs:label obo:DOID_0081375 "nemaline myopathy 5C"@en)
 SubClassOf(obo:DOID_0081375 obo:DOID_3191)
 SubClassOf(obo:DOID_0081375 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
-# Class: obo:DOID_0081376 (sorbitol dehydrogenase deficiency with peripheral neuropathy)
+# Class: obo:DOID_0081376 (obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy)
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32367058/") obo:IAO_0000115 obo:DOID_0081376 "A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081376 "OMIM:618912")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081376 "SORDD")
+AnnotationAssertion(obo:IAO_0100001 obo:DOID_0081376 "DOID:0081427")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081376 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0081376 "DOID:0081376")
-AnnotationAssertion(rdfs:label obo:DOID_0081376 "sorbitol dehydrogenase deficiency with peripheral neuropathy"@en)
-SubClassOf(obo:DOID_0081376 obo:DOID_440)
-SubClassOf(obo:DOID_0081376 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+AnnotationAssertion(rdfs:label obo:DOID_0081376 "obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy"@en)
+AnnotationAssertion(owl:deprecated obo:DOID_0081376 "true"^^xsd:boolean)
 
 # Class: obo:DOID_0081377 (COX deficiency, benign infantile mitochondrial myopathy)
 
@@ -63417,7 +63415,10 @@ SubClassOf(obo:DOID_0081426 obo:DOID_0111197)
 # Class: obo:DOID_0081427 (autosomal recessive distal hereditary motor neuronopathy 8)
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32367058/") obo:IAO_0000115 obo:DOID_0081427 "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081427 "OMIM:619216")
+AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0081427 "DOID:0081376")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081427 "OMIM:618912")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081427 "SORDD")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081427 "sorbitol dehydrogenase deficiency with peripheral neuropathy")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081427 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0081427 "DOID:0081427")
 AnnotationAssertion(rdfs:label obo:DOID_0081427 "autosomal recessive distal hereditary motor neuronopathy 8"@en)