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Namespace Prefixes

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Statements

Subject Item
n2:DOID_0111739
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050566
rdfs:label
X-linked deafness 1
wdrs:describedby
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obo:id
DOID:0111739
obo:hasDbXref
OMIM:304500
obo:hasExactSynonym
DFN2 DFNX1 X-linked sensorineural congenital deafness 2
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3.