Deafness, autosomal recessive 2

Preferred Label : Deafness, autosomal recessive 2;

Symbol : DFNB2;

CISMeF acronym : DFNB2; NSRD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurosensory nonsyndromic recessive deafness 2; NSRD2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin VIIA gene (MYO7A, 276903.0007);

Prefixed ID : #600060;

Details

Origin ID

600060;

UMLS CUI

C1838701;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 2 [DO Concept]
- deafness, autosomal recessive 2 [MeSH concept]
- deafness, autosomal recessive 2 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 2 [DO Concept]
Genes related to phenotype
- Myosin viia [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital onset [HPO term]
- Sensorineural hearing impairment [HPO term]
- Usually autosomal dominant [HPO term]
- Variable age at onset [HPO term]
- Vertigo [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- myosin VIIA [ORDO Gene]
- symbol withdrawn DFNB2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 2 [MeSH Supplementary Concept]
- deafness, autosomal recessive 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients