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Namespace Prefixes

Prefix	IRI
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n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50942198

rdf:type

owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n3:ECO_0007645 n3:ECO_0007636

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_0090067

owl:annotatedTarget

A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.

obo:hasDbXref

url:https://www.omim.org/entry/228930 url:https://www.ncbi.nlm.nih.gov/pubmed/28917830