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Update inheritance of acromesomelic dysplasia, Grebe type
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Issue #1090
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csbjohnson committed Dec 23, 2024
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2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -51450,7 +51450,7 @@ SubClassOf(obo:DOID_0080051 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0080052 (acromesomelic dysplasia, Grebe type)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf") Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia") obo:IAO_0000115 obo:DOID_0080052 "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf") Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia") obo:IAO_0000115 obo:DOID_0080052 "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080052 "GARD:1300")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080052 "MIM:200700")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080052 "ORDO:2098")
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