Deafness, autosomal recessive 24

Preferred Label : Deafness, autosomal recessive 24;

Symbol : DFNB24;

CISMeF acronym : DFNB24;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the radixin gene (RDX, 179410.0001);

Prefixed ID : #611022;

Details

Origin ID

611022;

UMLS CUI

C1970239;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 24 [DO Concept]
- deafness, autosomal recessive, 24 [MeSH concept]
- deafness, autosomal recessive, 24 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 24 [DO Concept]
Genes related to phenotype
- Radixin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Infantile onset [HPO term]
- Profound 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]
UMLS correspondences (same concept)
- deafness, autosomal recessive, 24 [MeSH Supplementary Concept]
- deafness, autosomal recessive, 24 [MeSH concept]

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