Deafness, autosomal dominant 12

Preferred Label : Deafness, autosomal dominant 12;

Symbol : DFNA12;

CISMeF acronym : DFNA12; DFNA8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, autosomal dominant 8; DFNA8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-tectorin gene (TECTA, 602574.0001);

Prefixed ID : #601543;

Details

Origin ID

601543;

UMLS CUI

C1832187;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- TECTA wt Allele [NCIt concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 12 [DO Concept]
- deafness, autosomal dominant 12 [MeSH concept]
- deafness, autosomal dominant 12 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 12 [DO Concept]
Genes related to phenotype
- Tectorin, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNA12 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 12 [DO Concept]
- deafness, autosomal dominant 12 [MeSH Supplementary Concept]
- deafness, autosomal dominant 12 [MeSH concept]

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