General Information of Disease (ID: DIS3PLY1)

Disease Name Type 1 interferonopathy
Definition
Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.
Disease Hierarchy
DISCMCGL: Autoinflammatory syndrome
DIS3PLY1: Type 1 interferonopathy
Disease Identifiers
MONDO ID
MONDO_0700264
UMLS CUI
C5681258
MedGen ID
1842334
Orphanet ID
477647