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Definition category change of facioscapulohumeral muscular dystrophy 3
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csbjohnson committed Aug 18, 2023
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2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -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")
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