Deafness, autosomal dominant 28

Preferred Label : Deafness, autosomal dominant 28;

Symbol : DFNA28;

CISMeF acronym : DFNA28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GRHL2 gene (608576.0001);

Prefixed ID : #608641;

Details

Origin ID

608641;

UMLS CUI

C1837640;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- GRHL2 wt Allele [NCIt concept]
- grainyhead like transcription factor 2 [ORDO Gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 28 [DO Concept]
- deafness, autosomal dominant 28 [MeSH concept]
- deafness, autosomal dominant 28 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 28 [DO Concept]
Genes related to phenotype
- Grainyhead-like 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Progressive [HPO term]
- Sensorineural hearing impairment [HPO term]
- Variable age at onset [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 28 [DO Concept]
- deafness, autosomal dominant 28 [MeSH Supplementary Concept]
- deafness, autosomal dominant 28 [MeSH concept]

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