About: X-linked deafness 2

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked nonsyndromic deafness
label	X-linked deafness 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111737
has_alternative_id	DOID:0080783
database_cross_reference	OMIM:304400 ORDO:383
has_exact_synonym	X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness DFN3 DFNX2 Nance deafness X-linked mixed conductive and sensorineural hearing loss X-linked deafness type 2 X-linked sensorineural deafness X-linked stapes gusher syndrome conductive deafness 3 with stapes fixation conductive deafness with stapes fixation mixed deafness with perilymphatic gusher X-linked mixed conductive and neurosensory deafness
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945376

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