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;

Détails

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]

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