Add SCAN3 (DOID:0070465) & update SCAN diseases

Closes #1157
DiseaseOntology · Sep 26, 2023 · 6b75f25 · 6b75f25
1 parent 2c78865
commit 6b75f25
Showing 1 changed file with 18 additions and 3 deletions.
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2353,6 +2353,7 @@ Declaration(Class(obo:DOID_0070461))
 Declaration(Class(obo:DOID_0070462))
 Declaration(Class(obo:DOID_0070463))
 Declaration(Class(obo:DOID_0070464))
+Declaration(Class(obo:DOID_0070465))
 Declaration(Class(obo:DOID_0070466))
 Declaration(Class(obo:DOID_0070467))
 Declaration(Class(obo:DOID_0080000))
@@ -24250,6 +24251,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050755 "SCAR1")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050755 "ataxia with oculomotor apraxia type 2")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050755 "autosomal recessive spinocerebellar ataxia 1")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050755 "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0050755 "spinocerebellar ataxia with axonal neuropathy type 2")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0050755 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0050755 "DOID:0050755")
 AnnotationAssertion(rdfs:label obo:DOID_0050755 "spinocerebellar ataxia with axonal neuropathy 2")
@@ -46241,6 +46243,18 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070464 "OMIM:620359")
 SubClassOf(obo:DOID_0070464 obo:DOID_0111143)
 SubClassOf(obo:DOID_0070464 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0070465 (spinocerebellar ataxia with axonal neuropathy type 3)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29718187/") obo:IAO_0000115 obo:DOID_0070465 "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070465 "OMIM:618387")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070465 "spinocerebellar ataxia with axonal neuropathy 3"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070465 "SCAN3")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070465 "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070465 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070465 "DOID:0070465")
+AnnotationAssertion(rdfs:label obo:DOID_0070465 "spinocerebellar ataxia with axonal neuropathy type 3")
+SubClassOf(obo:DOID_0070465 obo:DOID_0050950)
+
 # Class: obo:DOID_0070466 (carpal tunnel syndrome 1)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8309582/") obo:IAO_0000115 obo:DOID_0070466 "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1.")
@@ -62853,19 +62867,20 @@ AnnotationAssertion(rdfs:label obo:DOID_0090114 "Sorsby's fundus dystrophy")
 SubClassOf(obo:DOID_0090114 obo:DOID_8500)
 SubClassOf(obo:DOID_0090114 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
-# Class: obo:DOID_0090115 (spinocerebellar ataxia type 1 with axonal neuropathy)
+# Class: obo:DOID_0090115 (spinocerebellar ataxia with axonal neuropathy 1)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124") obo:IAO_0000115 obo:DOID_0090115 "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090115 "GARD:10000")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090115 "ICD10CM:G60.2")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090115 "OMIM:607250")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090115 "ORDO:94124")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090115 "SCAN1"@en)
-AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090115 "autosomal recessive spinocerebellar ataxia with axonal neuropathy"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090115 "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1"@en)
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0090115 "spinocerebellar ataxia with axonal neuropathy type 1")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090115 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0090115 "DOID:0090115")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0090115 doid:DO_rare_slim)
-AnnotationAssertion(rdfs:label obo:DOID_0090115 "spinocerebellar ataxia type 1 with axonal neuropathy")
+AnnotationAssertion(rdfs:label obo:DOID_0090115 "spinocerebellar ataxia with axonal neuropathy 1")
 SubClassOf(obo:DOID_0090115 obo:DOID_0050950)
 SubClassOf(obo:DOID_0090115 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))