Deafness, autosomal recessive 48

Preferred Label : Deafness, autosomal recessive 48;

Symbol : DFNB48;

CISMeF acronym : DFNB48;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium- and integrin-binding protein 2 gene (CIB2, 605564.0001);

Prefixed ID : #609439;

Details

Origin ID

609439;

UMLS CUI

C1836199;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 48 [DO Concept]
- deafness, autosomal recessive 48 [MeSH concept]
- deafness, autosomal recessive 48 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 48 [DO Concept]
Genes related to phenotype
- Calcium- and integrin-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Profound sensorineural hearing impairment [HPO term]
- Vestibular dysfunction [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 48 [MeSH Supplementary Concept]
- deafness, autosomal recessive 48 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients