Details of Disease | DrugMAP

General Information of Disease (ID: DISJHYGR)

Disease Name	Autosomal recessive nonsyndromic hearing loss 23
Synonyms	autosomal recessive deafness 23; autosomal recessive nonsyndromic deafness 23; autosomal recessive nonsyndromic deafness caused by mutation in PCDH15; DFNB23; autosomal recessive nonsyndromic deafness type 23; PCDH15 autosomal recessive nonsyndromic deafness; deafness, autosomal recessive 23; deafness, autosomal recessive type 23
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISJHYGR: Autosomal recessive nonsyndromic hearing loss 23
Disease Identifiers	MONDO ID MONDO_0012293 MESH ID C563705 UMLS CUI C1836027 OMIM ID 609533 MedGen ID 332110

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
PCDH15	OTU9C2EH	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.