Deafness, autosomal recessive 114

Preferred Label : Deafness, autosomal recessive 114;

Symbol : DFNB114;

CISMeF acronym : DFNB114;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GRB2-related adapter protein gene (GRAP, 604330.0001);

Prefixed ID : #618456;

Details

Origin ID

618456;

UMLS CUI

C5193107;

Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 114 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 114 [DO Concept]
Genes related to phenotype
- Grb2-related adaptor protein [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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