From 7fab34e26083ff3fa4f147d0ffeb809ff5855dad Mon Sep 17 00:00:00 2001 From: csbjohnson Date: Fri, 18 Aug 2023 12:03:53 -0400 Subject: [PATCH] Definition category change of facioscapulohumeral muscular dystrophy 3 --- src/ontology/doid-edit.owl | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index da2d5fa6c..7af38a2ed 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -40356,7 +40356,7 @@ SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000093 # Class: obo:DOID_0060917 (facioscapulohumeral muscular dystrophy 3) -AnnotationAssertion(dc:description obo:DOID_0060917 "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.") +AnnotationAssertion(obo:IAO_0000115 obo:DOID_0060917 "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060917 "OMIM:619477") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060917 "https://pubmed.ncbi.nlm.nih.gov/32467133/") AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060917 "FSHD3")