Deafness, autosomal dominant 44

Preferred Label : Deafness, autosomal dominant 44;

Symbol : DFNA44;

CISMeF acronym : DFNA44;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coiled-coil domain-containing protein 50 (CCDC50, 611051.0001);

Prefixed ID : #607453;

Details

Origin ID

607453;

UMLS CUI

C1843895;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 44 [DO Concept]
- deafness, autosomal dominant 44 [MeSH concept]
- deafness, autosomal dominant 44 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 44 [DO Concept]
Genes related to phenotype
- Coiled-coil domain-containing protein 50 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Abnormality of the inner ear [HPO term]
- Tinnitus [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 44 [DO Concept]
- deafness, autosomal dominant 44 [MeSH Supplementary Concept]
- deafness, autosomal dominant 44 [MeSH concept]

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