Deafness, autosomal recessive 29

Preferred Label : Deafness, autosomal recessive 29;

Symbol : DFNB29;

CISMeF acronym : DFNB29;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the claudin 14 gene (CLDN14, 605608.0001);

Prefixed ID : #614035;

Details

Origin ID

614035;

UMLS CUI

C3279660;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 29 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 29 [DO Concept]
Genes related to phenotype
- Claudin 14 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
- Nonprogressive [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients