Skip to content

Commit 0f92c6f

Browse files
committed
Add nomenclature synonym to congenital myopathy 22A
1 parent de69e7b commit 0f92c6f

File tree

1 file changed

+2
-0
lines changed

1 file changed

+2
-0
lines changed

src/ontology/doid-edit.owl

Lines changed: 2 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -69015,6 +69015,7 @@ SubClassOf(obo:DOID_0081353 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
6901569015

6901669016
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26700687/") obo:IAO_0000115 obo:DOID_0081354 "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.")
6901769017
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081354 "MIM:620351")
69018+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081354 "classic congenital myopathy 22A")
6901869019
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081354 "disease_ontology")
6901969020
AnnotationAssertion(oboInOwl:id obo:DOID_0081354 "DOID:0081354")
6902069021
AnnotationAssertion(rdfs:label obo:DOID_0081354 "congenital myopathy 22A")
@@ -85052,6 +85053,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110932 "MIM:609285")
8505285053
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "CAP myopathy 2")
8505385054
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110932 "NEM4")
8505485055
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "nemaline myopathy 4, autosomal dominant")
85056+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "congenital myopathy 23")
8505585057
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110932 "disease_ontology")
8505685058
AnnotationAssertion(oboInOwl:id obo:DOID_0110932 "DOID:0110932")
8505785059
AnnotationAssertion(rdfs:label obo:DOID_0110932 "nemaline myopathy 4")

0 commit comments

Comments
 (0)