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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0111737
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050566
rdfs:label
X-linked deafness 2
wdrs:describedby
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obo:id
DOID:0111737
obo:hasAlternativeId
DOID:0080783
obo:hasDbXref
OMIM:304400 ORDO:383
obo:hasExactSynonym
conductive deafness 3 with stapes fixation mixed deafness with perilymphatic gusher X-linked deafness type 2 X-linked mixed conductive and sensorineural deafness DFN3 X-linked sensorineural deafness Nance deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural hearing loss X-linked stapes gusher syndrome DFNX2 X-linked mixed conductive and neurosensory deafness conductive deafness with stapes fixation
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.