D-2-hydroxyglutaric aciduria

Human disease
MedicalCondition rare_disease Q18553318
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D-2-hydroxyglutaric aciduria

Summary

D-2-hydroxyglutaric aciduria is a rare disease[1].

Key Facts

  • D-2-hydroxyglutaric aciduria's instance of is recorded as rare disease[2].
  • D-2-hydroxyglutaric aciduria's instance of is recorded as class of disease[3].
  • D-2-hydroxyglutaric aciduria's subclass of is recorded as 2-hydroxyglutaric aciduria[4].
  • D-2-hydroxyglutaric aciduria's MeSH descriptor ID is recorded as C535306[5].
  • D-2-hydroxyglutaric aciduria's OMIM ID is recorded as 600721[6].
  • D-2-hydroxyglutaric aciduria's OMIM ID is recorded as 613657[7].
  • D-2-hydroxyglutaric aciduria's KEGG ID is recorded as H01225[8].
  • D-2-hydroxyglutaric aciduria's Disease Ontology ID is recorded as DOID:0050575[9].
  • D-2-hydroxyglutaric aciduria's Orphanet ID is recorded as 79315[10].
  • D-2-hydroxyglutaric aciduria's genetic association is recorded as IDH2[11].
  • D-2-hydroxyglutaric aciduria's genetic association is recorded as D2HGDH[12].
  • D-2-hydroxyglutaric aciduria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050575[13].
  • D-2-hydroxyglutaric aciduria's exact match is recorded as http://identifiers.org/doid/DOID:0050575[14].
  • D-2-hydroxyglutaric aciduria's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79315[15].
  • D-2-hydroxyglutaric aciduria's UMLS CUI is recorded as C1833429[16].
  • D-2-hydroxyglutaric aciduria's ICD-10-CM is recorded as E72.8[17].
  • D-2-hydroxyglutaric aciduria's GARD rare disease ID is recorded as 5661[18].
  • D-2-hydroxyglutaric aciduria's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
  • D-2-hydroxyglutaric aciduria's Mondo ID is recorded as MONDO_0010924[20].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . Disease Ontology. Retrieved . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] . Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [13] . Disease Ontology. Retrieved . wikidata.org.
  13. [14] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . UMLS 2023. Retrieved . wikidata.org.
  16. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] . Disease Ontology. Retrieved . wikidata.org.
  18. [19] . wikidata.org.
  19. [20] . wikidata.org.

Class ancestry

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

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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). D-2-hydroxyglutaric aciduria. Retrieved May 3, 2026, from https://4ort.xyz/entity/d-2-hydroxyglutaric-aciduria
MLA “D-2-hydroxyglutaric aciduria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/d-2-hydroxyglutaric-aciduria.
BibTeX @misc{4ortxyz_d-2-hydroxyglutaric-aciduria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{D-2-hydroxyglutaric aciduria}}, year = {2026}, url = {https://4ort.xyz/entity/d-2-hydroxyglutaric-aciduria}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): D-2-hydroxyglutaric aciduria — https://4ort.xyz/entity/d-2-hydroxyglutaric-aciduria (retrieved 2026-05-03)

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