Deafness, autosomal recessive 68

Preferred Label : Deafness, autosomal recessive 68;

Symbol : DFNB68;

CISMeF acronym : DFNB68;

Type : Phenotype, molecular basis known;

Description : Santos et al. (2006) reported 2 consanguineous Pakistani families with autosomal recessive nonsyndromic sensorineural hearing loss. Genomewide linkage analysis followed by fine mapping identified a locus, termed;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sphingosine-1-phosphate receptor-2 gene (S1PR2, 605111.0001);

Prefixed ID : #610419;

Details

Origin ID

610419;

UMLS CUI

C1835854;

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 68 [DO Concept]
- deafness, autosomal recessive 68 [MeSH concept]
- deafness, autosomal recessive 68 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 68 [DO Concept]
Genes related to phenotype
- Sphingosine-1-phosphate receptor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Infantile onset [HPO term]
- Sensorineural deafness [HPO term]
- Sensorineural hearing impairment [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 68 [MeSH Supplementary Concept]
- deafness, autosomal recessive 68 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients