Deafness, Autosomal Recessive 12

Preferred Label : Deafness, Autosomal Recessive 12;

NCIt synonyms : DFNB12;

NCIt definition : A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D.;

Details

Origin ID

C201586;

UMLS CUI

C1832394;

Has associated anatomic sites
- Ear [NCIt concept]
- Head and Neck [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal recessive 12 [OMIM Phenotype]
- deafness, autosomal recessive 12 [MeSH Supplementary Concept]
- deafness, autosomal recessive 12 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CDH23 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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