Deafness, autosomal recessive 15

Preferred Label : Deafness, autosomal recessive 15;

Symbol : DFNB15;

CISMeF acronym : DFNB15; DFNB72; DFNB95;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, autosomal recessive 95; Deafness, autosomal recessive 72; DFNB72; DFNB95;

Description : This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GAIP C-terminus-interacting protein 3 (GIPC3, 608792.0001);

Prefixed ID : #601869;

Details

Origin ID

601869;

UMLS CUI

C1866094;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- GIPC PDZ domain containing family member 3 [ORDO Gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 15 [DO Concept]
- deafness, autosomal recessive 15 [MeSH concept]
- deafness, autosomal recessive 15 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 15 [DO Concept]
Genes related to phenotype
- Gipc pdz domain-containing family, member 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Prelingual sensorineural hearing impairment [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Abnormal facial shape [HPO term]
- Vestibular dysfunction [HPO term]
- Visual 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 15 [MeSH Supplementary Concept]
- deafness, autosomal recessive 15 [MeSH concept]

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