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Namespace Prefixes

Prefix	IRI
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n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
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

n2:DOID_0111571

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 n2:DOID_0060379 _:vb50945079

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Weyers acrofacial dysostosis

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obo:id

DOID:0111571

obo:hasDbXref

MESH:C536695 GARD:497 SNOMEDCT_US_2021_09_01:277807007 OMIM:193530 ORDO:952 UMLS_CUI:C0457013

obo:hasExactSynonym

Weyers acrodental dysostosis WAD acrofacial dysostosis, Weyers type Curry-Hall syndrome

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.

Subject Item

_:vb50945079

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owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

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