Deafness, autosomal dominant 36

Preferred Label : Deafness, autosomal dominant 36;

Symbol : DFNA36;

CISMeF acronym : DFNA36;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transmembrane channel-like protein 1 gene (TMC1, 606706.0001);

Prefixed ID : #606705;

Details

Origin ID

606705;

UMLS CUI

C1847626;

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
- Deafness, Autosomal Dominant 36 [NCIt concept]
- autosomal dominant nonsyndromic deafness 36 [DO Concept]
- deafness, autosomal dominant 36 [MeSH concept]
- deafness, autosomal dominant 36 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 36 [DO Concept]
Genes related to phenotype
- Transmembrane channel-like protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tinnitus [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)
- Deafness, Autosomal Dominant 36 [NCIt concept]
- autosomal dominant nonsyndromic deafness 36 [DO Concept]
- deafness, autosomal dominant 36 [MeSH Supplementary Concept]
- deafness, autosomal dominant 36 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients