Aicardi-Goutieres syndrome

a rare genetic neurodevelopmental disorder
MedicalCondition rare_disease Q403453
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Aicardi-Goutieres syndrome

Summary

Aicardi-Goutieres syndrome is a rare disease[1]. It has Wikipedia articles in 11 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Aicardi-Goutieres syndrome's instance of is recorded as rare disease[3].
  • Aicardi-Goutieres syndrome's instance of is recorded as class of disease[4].
  • Aicardi-Goutieres syndrome is a type of syndrome[5].
  • Aicardi-Goutieres syndrome is a type of autosomal genetic disease[6].
  • Aicardi-Goutieres syndrome is a type of disease[7].
  • Aicardi-Goutieres syndrome's NCI Thesaurus ID is recorded as C206077[8].
  • Aicardi-Goutieres syndrome's different from is recorded as Aicardi syndrome[9].
  • Aicardi-Goutieres syndrome's health specialty is recorded as neurology[10].
  • Aicardi-Goutieres syndrome's health specialty is recorded as medical genetics[11].
  • Aicardi-Goutieres syndrome's genetic association is recorded as TREX1[12].
  • Aicardi-Goutieres syndrome's genetic association is recorded as IFIH1[13].
  • Aicardi-Goutieres syndrome's genetic association is recorded as RNASEH2C[14].
  • Aicardi-Goutieres syndrome's genetic association is recorded as RNASEH2B[15].
  • Aicardi-Goutieres syndrome's genetic association is recorded as RNASEH2A[16].
  • Aicardi-Goutieres syndrome's genetic association is recorded as ADAR[17].
  • Aicardi-Goutieres syndrome's genetic association is recorded as SAMHD1[18].
  • Aicardi-Goutieres syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050629[19].
  • Aicardi-Goutieres syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050629[20].
  • Aicardi-Goutieres syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_51[21].
  • Aicardi-Goutieres syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].

Why It Matters

Aicardi-Goutieres syndrome has Wikipedia articles in 11 language editions, a strong signal of global cultural recognition.[2] It is known by 19 alternative names across languages and contexts.[23]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [13] . Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [14] . Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] . Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [16] . Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] . Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [18] . Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] . Disease Ontology. Retrieved . wikidata.org.
  18. [20] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [23] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Aicardi-Goutieres syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/aicardi-goutieres-syndrome
MLA “Aicardi-Goutieres syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/aicardi-goutieres-syndrome.
BibTeX @misc{4ortxyz_aicardi-goutieres-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Aicardi-Goutieres syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/aicardi-goutieres-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Aicardi-Goutieres syndrome — https://4ort.xyz/entity/aicardi-goutieres-syndrome (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 4d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Health specialty neurology, medical genetics
    Genetic association TREX1, IFIH1, RNASEH2C +4
    Subclass of
    Different from Aicardi syndrome
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
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