Update DOID:0070148 to reflect re-identification as CANVAS

See issue #1559

Author: allenbaron

src/ontology/doid-edit.owl

@@ -46446,23 +46446,41 @@ AnnotationAssertion(rdfs:label obo:DOID_0070147 "hereditary sensory neuropathy t
 SubClassOf(obo:DOID_0070147 obo:DOID_0070161)
 SubClassOf(obo:DOID_0070147 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
-# Class: obo:DOID_0070148 (hereditary sensory neuropathy type 1B)
+# Class: obo:DOID_0070148 (cerebellar ataxia, neuropathy, and vestibular areflexia syndrome)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12870133") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16311270") obo:IAO_0000115 obo:DOID_0070148 "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8262986/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32873692/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41084404/") obo:IAO_0000115 obo:DOID_0070148 "A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "MESH:C000726747")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "MESH:C564296")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "MIM:608088")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "MIM:614575")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "NCI:C202046")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "ORDO:139564")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "ORDO:504476")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "SNOMEDCT_US_2023_03_01:717825008")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "SNOMEDCT_US_2025_09_01:1236804009")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "UMLS_CUI:C1842586")
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070148 "HSAN with cough and gastroesophageal reflux")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070148 "UMLS_CUI:C3281223")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070148 "CANVAS")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070148 "hereditary sensory and autonomic neuropathy type 1B")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070148 "hereditary sensory neuropathy type 1B")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070148 "hereditary sensory neuropathy type IB")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070148 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0070148 "DOID:0070148")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070148 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0070148 "hereditary sensory neuropathy type 1B")
-SubClassOf(obo:DOID_0070148 obo:DOID_0050548)
-SubClassOf(obo:DOID_0070148 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
-SubClassOf(obo:DOID_0070148 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000614))
+AnnotationAssertion(rdfs:label obo:DOID_0070148 "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome")
+AnnotationAssertion(skos:broadMatch obo:DOID_0070148 "ICD10CM:G11.2")
+AnnotationAssertion(skos:broadMatch obo:DOID_0070148 "ICD10CM:G60.8")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "MESH:C000726747")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "MESH:C564296")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "NCI:C202046")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "ORDO:139564")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "ORDO:504476")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "UMLS_CUI:C1842586")
+AnnotationAssertion(skos:closeMatch obo:DOID_0070148 "UMLS_CUI:C3281223")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070148 "MIM:614575")
+SubClassOf(obo:DOID_0070148 obo:DOID_225)
+SubClassOf(obo:DOID_0070148 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+SubClassOf(obo:DOID_0070148 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
+SubClassOf(obo:DOID_0070148 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_2491))
 
 # Class: obo:DOID_0070149 (hereditary sensory and autonomic neuropathy type 7)