Deafness, autosomal dominant 17

Preferred Label : Deafness, autosomal dominant 17;

Symbol : DFNA17;

CISMeF acronym : DFNA17;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cochleosaccular degeneration;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin, heavy chain 9, nonmuscle gene (MYH9, 160775.0008);

Prefixed ID : #603622;

Détails

Origin ID

603622;

UMLS CUI

C1863659;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- MYH9 wt Allele [NCIt concept]
- cochleosaccular degeneration of the inner ear and progressive cataracts [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 17 [DO Concept]
- deafness, autosomal dominant 17 [MeSH concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 17 [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 9, nonmuscle [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- High-frequency hearing impairment [HPO term]
- Juvenile onset [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNA17 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 17 [DO Concept]
- deafness, autosomal dominant 17 [MeSH concept]
Validated automatic mappings to NTBT
- MYH9-Related Disorders [MeSH Supplementary Concept]

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