Deafness, X-linked 4

Preferred Label : Deafness, X-linked 4;

Symbol : DFNX4;

CISMeF acronym : DFNX4; DFN6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, X-linked 6, progressive; Deafness, nonsyndromic sensorineural progressive 6; DFN6;

Description : X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by del Castillo et al., 1996).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the X-linked small muscle protein gene (SMPX, 300226.0001);

Prefixed ID : #300066;

Details

Origin ID

300066;

UMLS CUI

C1848204;

Automatic exact mappings (from CISMeF team)
- X-linked non-syndromic sensorineural deafness type DFN [ORDO Disease]
- small muscle protein X-linked [ORDO Gene]
- small muscle protein X-linked [HGNC gene]
- symbol withdrawn DFN6 [HGNC gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- X-Linked Deafness-4 [NCIt concept]
- X-linked deafness 4 [DO Concept]
- deafness, X-Linked 4 [MeSH concept]
- deafness, X-Linked 4 [MeSH Supplementary Concept]
DO Cross reference
- X-linked deafness 4 [DO Concept]
Genes related to phenotype
- Small muscle protein, X-linked [OMIM gene]
HPO term(s)
- Bilateral sensorineural deafness [HPO term]
- Childhood onset [HPO term]
- High-frequency deafness [HPO term]
- High-frequency hearing impairment [HPO term]
- Sensorineural hearing impairment [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic sensorineural deafness type DFN [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Deafness-4 [NCIt concept]
- deafness, X-Linked 4 [MeSH Supplementary Concept]
- deafness, X-Linked 4 [MeSH concept]
Validated automatic mappings to NTBT
- X-linked nonsyndromic deafness [DO Concept]

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