Deafness, autosomal recessive 94

Preferred Label : Deafness, autosomal recessive 94;

Symbol : DFNB94;

CISMeF acronym : DFNB94;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the asparaginyl-tRNA synthetase 2 gene (NARS2, 612803.0005);

Prefixed ID : #618434;

Details

Origin ID

618434;

UMLS CUI

C5193096;

Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 94 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 94 [DO Concept]
Genes related to phenotype
- Asparaginyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNB94 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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