Details of Disease

General Information of Disease (ID: DIS0P3E9)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 24
• Synonyms: autosomal recessive nonsyndromic deafness 24; DFNB24; autosomal recessive nonsyndromic deafness type 24; autosomal recessive nonsyndromic deafness caused by mutation in RDX; deafness, autosomal recessive 24; RDX autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 24; autosomal recessive deafness 24; autosomal recessive nonsyndromic hearing loss 24
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DIS0P3E9: Autosomal recessive nonsyndromic hearing loss 24
• Disease Identifiers:
  MONDO ID: MONDO_0012602
  MESH ID: C567027
  UMLS CUI: C1970239
  OMIM ID: 611022
  MedGen ID: 370208

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RDX	OTNSYUN6	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.