Deafness, autosomal dominant 75

Preferred Label : Deafness, autosomal dominant 75;

Symbol : DFNA75;

CISMeF acronym : DFNA75;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transformation/transcription domain-associated protein gene (TRRAP, 603015.0006);

Prefixed ID : #618778;

Détails

Origin ID

618778;

UMLS CUI

C5394059;

Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 75 [DO Concept]
Genes related to phenotype
- Transformation/transcription domain-associated protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Abnormal cochlea morphology [HPO term]
- Abnormal facial shape [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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