Deafness, autosomal dominant 66

Preferred Label : Deafness, autosomal dominant 66;

Symbol : DFNA66;

CISMeF acronym : DFNA66;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CD164 antigen gene (CD164, 603356.0001);

Prefixed ID : #616969;

Détails

Origin ID

616969;

UMLS CUI

C4283893;

CISMeF manual mappings
- autosomal dominant nonsyndromic deafness 66 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 66 [DO Concept]
Genes related to phenotype
- Cd164 antigen [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Infantile onset [HPO term]
- Sensorineural hearing impairment [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- CD164 molecule [ORDO Gene]
- CD164 molecule [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 66 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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