Deafness, autosomal recessive 12

Preferred Label : Deafness, autosomal recessive 12;

Symbol : DFNB12;

CISMeF acronym : DFNB12;

Type : Phenotype, molecular basis known;

Description : Chaib et al. (1996) reviewed the frequency and inheritance of congenital isolated deafness and causes for difficulties associated with mapping of deafness genes. They noted that in the U.S., deafness affects 1 in 1000 children at birth or during infancy. About 75% of the inherited forms of congenital isolated deafness have an autosomal recessive mode of transmission.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cadherin 23 gene (CDH23, 605516.0005);

Prefixed ID : #601386;

Details

Origin ID

601386;

UMLS CUI

C1832394;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- CDH23 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 12 [DO Concept]
- deafness, autosomal recessive 12 [MeSH concept]
- deafness, autosomal recessive 12 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 12 [DO Concept]
Genes related to phenotype
- Atpase, ca(2+)-transporting, plasma membrane, 2 [OMIM gene]
- Cadherin 23 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Autosomal recessive inheritance [HPO term]
- Prelingual deafness [HPO term]
- Prelingual sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Retinitis [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, Autosomal Recessive 12 [NCIt concept]
- deafness, autosomal recessive 12 [MeSH Supplementary Concept]
- deafness, autosomal recessive 12 [MeSH concept]

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