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Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
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_0110575

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050564

rdfs:label

autosomal dominant nonsyndromic deafness 5

wdrs:describedby

n7:doid.owl

obo:id

DOID:0110575

obo:hasDbXref

ICD10CM:H90.3 OMIM:600994

obo:hasExactSynonym

DFNA5 autosomal dominant deafness 5

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.