Deafness, Autosomal Dominant 36

Preferred Label : Deafness, Autosomal Dominant 36;

NCIt synonyms : DFNA36;

NCIt definition : An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss.;

Details

Origin ID

C174444;

UMLS CUI

C1847626;

Currated CISMeF NLP mapping
- Deafness, autosomal dominant 36 [OMIM Phenotype]
- autosomal dominant nonsyndromic deafness 36 [DO Concept]
- deafness, autosomal dominant 36 [MeSH concept]
- deafness, autosomal dominant 36 [MeSH Supplementary Concept]
Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal dominant 36 [OMIM Phenotype]
- deafness, autosomal dominant 36 [MeSH Supplementary Concept]
- deafness, autosomal dominant 36 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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