Deafness, autosomal recessive 79

Preferred Label : Deafness, autosomal recessive 79;

Symbol : DFNB79;

CISMeF acronym : DFNB79;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the taperin gene (TPRN, 613354.0001);

Prefixed ID : #613307;

Details

Origin ID

613307;

UMLS CUI

C2750082;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 79 [DO Concept]
- deafness, autosomal recessive 79 [MeSH concept]
- deafness, autosomal recessive 79 [MeSH Supplementary Concept]
- nonsyndromic sensorineural deafness autosomal recessive 79 [Disease (Nov.)]
DO Cross reference
- autosomal recessive nonsyndromic deafness 79 [DO Concept]
Genes related to phenotype
- Taperin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Progressive sensorineural hearing impairment [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]
UMLS correspondences (same concept)
- autosomal recessive nonsyndromic deafness 79 [DO Concept]
- deafness, autosomal recessive 79 [MeSH Supplementary Concept]
- deafness, autosomal recessive 79 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal recessive 79 [Disease (Nov.)]

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