General Information of Disease (ID: DISDB01I)

Disease Name ADAR-related type 1 interferonopathy
Definition
Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.
Disease Hierarchy
DIS3PLY1: Type 1 interferonopathy
DIS8I9FS: Hereditary disorder of connective tissue
DISDB01I: ADAR-related type 1 interferonopathy