Deafness, Autosomal Recessive 36

Preferred Label : Deafness, Autosomal Recessive 36;

NCIt synonyms : DFNB36;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ESPN gene, encoding espin. It is characterized by profound sensorineural hearing loss.;

Details

Origin ID

C174436;

UMLS CUI

C3496242;

Currated CISMeF NLP mapping
- Deafness, autosomal recessive 36, with or without vestibular involvement [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 36 [DO Concept]
- deafness, autosomal recessive 36 [MeSH Supplementary Concept]
- deafness, autosomal recessive 36 [MeSH 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 recessive 36 [MeSH Supplementary Concept]
- deafness, autosomal recessive 36 [MeSH concept]
disease_mapped_to_gene
- ESPN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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