Deafness, autosomal dominant 64

Preferred Label : Deafness, autosomal dominant 64;

Symbol : DFNA64;

CISMeF acronym : DFNA64;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the direct IAP-binding protein with low pI (DIABLO, 605219.0001);

Prefixed ID : #614152;

Details

Origin ID

614152;

UMLS CUI

C3279948;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 64 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 64 [DO Concept]
Genes related to phenotype
- Direct iap-binding protein with low pi [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Progressive [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tinnitus [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- DIABLO wt Allele [NCIt concept]
- diablo IAP-binding mitochondrial protein [ORDO Gene]
- diablo IAP-binding mitochondrial protein [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 64 [DO Concept]

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