Deafness, autosomal recessive 35

Preferred Label : Deafness, autosomal recessive 35;

Symbol : DFNB35;

CISMeF acronym : DFNB35;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the estrogen-related receptor, beta gene (ESRRB, 602167.0001);

Prefixed ID : #608565;

Details

Origin ID

608565;

UMLS CUI

C1837857;

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 35 [DO Concept]
- deafness, autosomal recessive 35 [MeSH concept]
- deafness, autosomal recessive 35 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 35 [DO Concept]
Genes related to phenotype
- Estrogen-related receptor, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Abnormal ear morphology [HPO term]
- Abnormality of vision [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- ESRRB wt Allele [NCIt concept]
- estrogen related receptor beta [ORDO Gene]
- symbol withdrawn DFNB35 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 35 [MeSH Supplementary Concept]
- deafness, autosomal recessive 35 [MeSH concept]

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