deafness, autosomal recessive 12

Preferred Label : deafness, autosomal recessive 12;

MeSH note : mutation in CDh23;

MeSH synonym : DFNB12;

Origin ID

C563327;

UMLS CUI

C1832394;

Automatic exact mappings (from CISMeF team)
- CDH23 wt Allele [NCIt concept]
- cadherin related 23 [ORDO Gene]
Currated CISMeF NLP mapping
- Deafness, autosomal recessive 12 [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 12 [DO Concept]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- deafness, autosomal recessive 12 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 12 [NCIt concept]
- Deafness, autosomal recessive 12 [OMIM Phenotype]