Details of Disease

General Information of Disease (ID: DISAANZV)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 18B
• Synonyms: DFNB18B; autosomal recessive deafness 18B; autosomal recessive nonsyndromic deafness 18B; autosomal recessive nonsyndromic deafness type 18B; OTOG autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 18B; autosomal recessive nonsyndromic deafness caused by mutation in OTOG; deafness, autosomal recessive 18b; deafness, autosomal recessive 18B; autosomal recessive nonsyndromic hearing loss 18B
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISAANZV: Autosomal recessive nonsyndromic hearing loss 18B
• Disease Identifiers:
  MONDO ID: MONDO_0013985
  UMLS CUI: C3554163
  OMIM ID: 614945
  MedGen ID: 767077

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
OTOG	OT5U4SVN	Definitive	Autosomal recessive	[1]

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.