General Information of Disease (ID: DISK2XCO)

Disease Name RNASEH2C-related type 1 interferonopathy
Definition
Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
Disease Hierarchy
DIS3PLY1: Type 1 interferonopathy
DIS8I9FS: Hereditary disorder of connective tissue
DISK2XCO: RNASEH2C-related type 1 interferonopathy