Details of Disease

General Information of Disease (ID: DISUD6NH)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 104
• Synonyms: autosomal recessive nonsyndromic deafness 104; RIPOR2 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness type 104; autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2; deafness, autosomal recessive 104; deafness, autosomal recessive type 104; autosomal recessive deafness 104; DFNB104
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISUD6NH: Autosomal recessive nonsyndromic hearing loss 104
• Disease Identifiers:
  MONDO ID: MONDO_0014675
  UMLS CUI: C4225298
  OMIM ID: 616515
  MedGen ID: 899775

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
RIPOR2	OTXB6LIR	Moderate	Autosomal recessive	[1]

References

• [1] FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23.