Details of Disease
General Information of Disease (ID: DIS1SB3H)
Disease Name | RNASEH2A-related type 1 interferonopathy | ||||
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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.
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