Deafness, autosomal dominant 48

Preferred Label : Deafness, autosomal dominant 48;

Symbol : DFNA48;

CISMeF acronym : DFNA48;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %607841;

Details

Origin ID

607841;

UMLS CUI

C1842939;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 48 [DO Concept]
- deafness, autosomal dominant 48 [MeSH concept]
- deafness, autosomal dominant 48 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 48 [DO Concept]
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 48 [DO Concept]
- deafness, autosomal dominant 48 [MeSH Supplementary Concept]
- deafness, autosomal dominant 48 [MeSH concept]

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