Deafness, autosomal dominant 37

Preferred Label : Deafness, autosomal dominant 37;

Symbol : DFNA37;

CISMeF acronym : DFNA37;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen, type XI, alpha-1 gene (COL11A1, 120280.0013);

Prefixed ID : #618533;

Details

Origin ID

618533;

UMLS CUI

C4760307;

Genes related to phenotype
- Collagen, type XI, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients