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fixed ID space and dup defs
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lschriml committed Nov 16, 2023
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1 change: 0 additions & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -40409,7 +40409,6 @@ SubClassOf(obo:DOID_0060916 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000093

# Class: obo:DOID_0060917 (proteasome-associated autoinflammatory syndrome 1)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32467133/") 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(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21129723/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21852578/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21881205/") obo:IAO_0000115 obo:DOID_0060917 "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060917 "GARD:10988")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060917 "GARD:3916")
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