Deafness, X-linked 2

Preferred Label : Deafness, X-linked 2;

Symbol : DFNX2;

CISMeF acronym : DFNX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, conductive, with stapes fixation; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear; Perilymphatic gusher-deafness syndrome; Deafness, mixed, with perilymphatic gusher; DFN3; Nance deafness; Deafness 3, conductive, with stapes fixation;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the POU domain, class 3, transcription factor 4 gene (POU3F4, 300039.0001);

Prefixed ID : #304400;

Details

Origin ID

304400;

UMLS CUI

C1844678;

Currated CISMeF NLP mapping
- X-linked deafness 2 [DO Concept]
- X-linked mixed deafness with perilymphatic gusher [ORDO Disease]
- progressive hearing loss stapes fixation [MeSH concept]
- progressive hearing loss stapes fixation [MeSH Supplementary Concept]
DO Cross reference
- X-linked deafness 2 [DO Concept]
- sensorineural hearing loss [DO Concept]
Genes related to phenotype
- Pou domain, class 3, transcription factor 4 [OMIM gene]
HPO term(s)
- Conductive hearing impairment [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Dilatated internal auditory canal [HPO term]
- Mixed hearing impairment [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Stapes ankylosis [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Mitochondrial non-syndromic sensorineural deafness [ORDO Disease]
- X-linked mixed deafness with perilymphatic gusher [ORDO Disease]
See also inter- (CISMeF)
- POU class 3 homeobox 4 [ORDO Gene]
- POU class 3 homeobox 4 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked mixed deafness with perilymphatic gusher [ORDO Disease]
- progressive hearing loss stapes fixation [MeSH Supplementary Concept]
- progressive hearing loss stapes fixation [MeSH concept]
Validated automatic mappings to NTBT
- X-linked nonsyndromic deafness [DO Concept]

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