General Information of Disease (ID: DISLK6P9)

Disease Name Autosomal recessive nonsyndromic hearing loss 22
Synonyms
OTOA autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 22; autosomal recessive nonsyndromic deafness type 22; autosomal recessive deafness 22; DFNB22; deafness, autosomal recessive 22; deafness, autosomal recessive type 22; autosomal recessive nonsyndromic deafness caused by mutation in OTOA; autosomal recessive nonsyndromic hearing loss 22
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISLK6P9: Autosomal recessive nonsyndromic hearing loss 22
Disease Identifiers
MONDO ID
MONDO_0011762
MESH ID
C564633
UMLS CUI
C1846896
OMIM ID
607039
MedGen ID
339636

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
OTOA OTBTEFIE Definitive Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.