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CompoundsSubstances with curated findings
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AnatomyTissues, by what is expressed there
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DiseasesFeatures, genes, and where each sits

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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
Articles

Chemistry

Reactions
Reach

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

type 1 interferonopathy

MONDO:0700264Mondo

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Findings

No curated finding names type 1 interferonopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0700264), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: autoinflammatory syndrome
Narrower terms (9): ADAR-related type 1 interferonopathy
IFIH1-related type 1 interferonopathy
RNASEH2A-related type 1 interferonopathy
RNASEH2B-related type 1 interferonopathy
RNASEH2C-related type 1 interferonopathy
RNU7-1-related type 1 interferonopathy
SAMHD1-related type 1 interferonopathy
TREX1-related type 1 interferonopathy
type 1 interferonopathy of childhood