Details of Disease

General Information of Disease (ID: DIS0CTBN)

• Disease Name: Obsolete ocular albinism with congenital sensorineural hearing loss
• Synonyms: Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive; ocular albinism with sensorineural deafness; ocular albinism with congenital sensorineural deafness; albinism, ocular, with sensorineural deafness; digenic Waardenburg syndrome/ocular albinism; Waardenburg syndrome/ocular albinism, digenic; digenic Waardenburg syndrome/albinism; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; Waardenburg syndrome type 2 with ocular albinism; Waardenburg syndrome/albinism, digenic; WS2-OA
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DIS0CTBN: Obsolete ocular albinism with congenital sensorineural hearing loss

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
MITF	OT6XJCZH	Definitive	Autosomal dominant	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.