Deafness, autosomal recessive 16

Preferred Label : Deafness, autosomal recessive 16;

Symbol : DFNB16;

CISMeF acronym : DFNB16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the stereocilin gene (STRC, 606440.0001);

Prefixed ID : #603720;

Details

Origin ID

603720;

UMLS CUI

C1863561;

Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 16 [DO Concept]
- deafness, autosomal recessive 16 [MeSH concept]
- deafness, autosomal recessive 16 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 16 [DO Concept]
Genes related to phenotype
- Stereocilin [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)
- symbol withdrawn DFNB16 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 16 [MeSH Supplementary Concept]
- deafness, autosomal recessive 16 [MeSH concept]

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