Deafness, autosomal recessive 3

Preferred Label : Deafness, autosomal recessive 3;

Symbol : DFNB3;

CISMeF acronym : DFNB3; NSRD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurosensory nonsyndromic recessive deafness 3; NSRD3;

Inheritance : Autosomal recessive (17p12-q12);

Prefixed ID : #600316;

Details

Origin ID

600316;

UMLS CUI

C1838263;

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 3 [DO Concept]
- deafness, autosomal recessive 3 [MeSH concept]
- deafness, autosomal recessive 3 [MeSH Supplementary Concept]
- nonsyndromic sensorineural deafness autosomal recessive 3 [Disease (Nov.)]
DO Cross reference
- autosomal recessive nonsyndromic deafness 3 [DO Concept]
Genes related to phenotype
- Myosin xva [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital sensorineural deafness [HPO term]
- Profound sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- MYO15A wt Allele [NCIt concept]
- symbol withdrawn DFNB3 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive nonsyndromic deafness 3 [DO Concept]
- deafness, autosomal recessive 3 [MeSH Supplementary Concept]
- deafness, autosomal recessive 3 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal recessive 3 [Disease (Nov.)]

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