SPARQL | HTML Microdata document
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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_0111738
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050566
rdfs:label
X-linked deafness 7
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111738
obo:hasDbXref
ORDO:500188
OMIM:301018
obo:hasExactSynonym
DFNX7
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1.