Deafness, autosomal recessive 25

Preferred Label : Deafness, autosomal recessive 25;

Symbol : DFNB25;

CISMeF acronym : DFNB25;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutaredoxin, cysteine-rich, 1 gene (GRXCR1, 613283.0001);

Prefixed ID : #613285;

Details

Origin ID

613285;

UMLS CUI

C1414017;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 25 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 25 [DO Concept]
Genes related to phenotype
- Glutaredoxin, cysteine-rich, 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Vestibular dysfunction [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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