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Update inheritance of acromesomelic dysplasia, Maroteaux type
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Issue #1090
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csbjohnson committed Dec 23, 2024
1 parent b5a1b30 commit aadd32f
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2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -51416,7 +51416,7 @@ SubClassOf(obo:DOID_0080049 obo:DOID_2256)

# Class: obo:DOID_0080050 (acromesomelic dysplasia, Maroteaux type)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf") Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia") obo:IAO_0000115 obo:DOID_0080050 "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf") Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia") obo:IAO_0000115 obo:DOID_0080050 "An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080050 "GARD:507")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080050 "MESH:C535661")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080050 "MIM:602875")
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