General Information of Disease (ID: DIS1SB3H)

Disease Name RNASEH2A-related type 1 interferonopathy
Definition
Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
Disease Hierarchy
DIS3PLY1: Type 1 interferonopathy
DIS8I9FS: Hereditary disorder of connective tissue
DIS1SB3H: RNASEH2A-related type 1 interferonopathy