Deafness, autosomal dominant 21

Preferred Label : Deafness, autosomal dominant 21;

Symbol : DFNA21;

CISMeF acronym : DFNA21;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #607017;

Details

Origin ID

607017;

UMLS CUI

C1846922;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 21 [DO Concept]
- deafness, autosomal dominant 21 [MeSH concept]
- deafness, autosomal dominant 21 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 21 [DO Concept]
Genes related to phenotype
- Rho family-interacting cell polarization regulator 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 21 [DO Concept]
- deafness, autosomal dominant 21 [MeSH Supplementary Concept]
- deafness, autosomal dominant 21 [MeSH concept]

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