Deafness, autosomal recessive 6

Preferred Label : Deafness, autosomal recessive 6;

Symbol : DFNB6;

CISMeF acronym : DFNB6; NSRD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NSRD6; Neurosensory nonsyndromic recessive deafness 6;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane inner ear-expressed gene (TMIE, 607237.0001);

Prefixed ID : #600971;

Details

Origin ID

600971;

UMLS CUI

C1832992;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- otoferlin [ORDO Gene]
- otoferlin [HGNC gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 6 [DO Concept]
- deafness, autosomal recessive 6 [MeSH concept]
- deafness, autosomal recessive 6 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 6 [DO Concept]
Genes related to phenotype
- Transmembrane inner ear-expressed gene [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
Not associated HPO term(s)
- Morphological abnormality of the inner ear [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)
- deafness, autosomal recessive 6 [MeSH Supplementary Concept]
- deafness, autosomal recessive 6 [MeSH concept]

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