Deafness, autosomal recessive 61

Preferred Label : Deafness, autosomal recessive 61;

Symbol : DFNB61;

CISMeF acronym : DFNB61;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 26, member 5 gene (SLC26A5, 604943.0002);

Prefixed ID : #613865;

Details

Origin ID

613865;

UMLS CUI

C3151230;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 61 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 61 [DO Concept]
Genes related to phenotype
- Solute carrier family 26, member 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- solute carrier family 26 member 5 [ORDO Gene]
- solute carrier family 26 member 5 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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