Details of Disease | DrugMAP

General Information of Disease (ID: DISXY86L)

Disease Name	Autosomal recessive nonsyndromic hearing loss 88
Synonyms	autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3; ELMOD3 autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 88; DFNB88; deafness, autosomal recessive 88; autosomal recessive nonsyndromic deafness type 88; autosomal recessive nonsyndromic deafness 88; autosomal recessive deafness 88
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISXY86L: Autosomal recessive nonsyndromic hearing loss 88
Disease Identifiers	MONDO ID MONDO_0014182 UMLS CUI C2829267 OMIM ID 615429 MedGen ID 811084

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELMOD3	OTLBB4DJ	Moderate	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLoS Genet. 2013;9(9):e1003774. doi: 10.1371/journal.pgen.1003774. Epub 2013 Sep 5.