Deafness, autosomal dominant 13

Preferred Label : Deafness, autosomal dominant 13;

Symbol : DFNA13;

CISMeF acronym : DFNA13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, 120290.0005);

Prefixed ID : #601868;

Details

Origin ID

601868;

UMLS CUI

C1866095;

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 13 [DO Concept]
- deafness, autosomal dominant 13 [MeSH concept]
- deafness, autosomal dominant 13 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 13 [DO Concept]
Genes related to phenotype
- Collagen, type XI, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Non-progressive congenital sensorineural hearing impairment [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 13 [DO Concept]
- deafness, autosomal dominant 13 [MeSH Supplementary Concept]
- deafness, autosomal dominant 13 [MeSH concept]

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