Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. [ https://clinicalgenome.org/affiliation/40123/ https://clinicalgenome.org/affiliation/40060/ https://clinicalgenome.org/affiliation/40107/ ]

This is just here as a test because I lose it

Term information

Subsets

gard_rare, rare

id

MONDO:0700256

term tracker item

https://github.com/monarch-initiative/mondo/issues/7365