Details of Disease | DrugMAP

General Information of Disease (ID: DISJBJGK)

Disease Name	Autosomal recessive nonsyndromic hearing loss 35
Synonyms	autosomal recessive nonsyndromic deafness type 35; DFNB35; deafness, autosomal recessive type 35; deafness, autosomal recessive 35; autosomal recessive nonsyndromic deafness 35; autosomal recessive nonsyndromic deafness caused by mutation in ESRRB; autosomal recessive deafness 35; ESRRB autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic hearing loss 35
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISJBJGK: Autosomal recessive nonsyndromic hearing loss 35
Disease Identifiers	MONDO ID MONDO_0012060 MESH ID C563908 UMLS CUI C1837857 OMIM ID 608565 MedGen ID 324897

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ESRRB	TTKF0XS	Strong	Autosomal recessive	[1]
ESRRB	TTKF0XS	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ESRRB	OT26ZBVF	Strong	Autosomal recessive	[1]
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References

1	Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008.