dihydropyrimidine dehydrogenase deficiency

purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine
MedicalCondition rare_disease Q5276448
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Summary

dihydropyrimidine dehydrogenase deficiency is a rare disease[1]. It draws 67 Wikipedia views per month (rare_disease category, ranking #235 of 627).[2]

Key Facts

  • dihydropyrimidine dehydrogenase deficiency's instance of is recorded as rare disease[3].
  • dihydropyrimidine dehydrogenase deficiency's instance of is recorded as class of disease[4].
  • dihydropyrimidine dehydrogenase deficiency is a type of inborn errors of purine–pyrimidine metabolism[5].
  • dihydropyrimidine dehydrogenase deficiency is a type of osteochondrosis of genetic origin[6].
  • dihydropyrimidine dehydrogenase deficiency is a type of pyrimidine metabolic disorder[7].
  • dihydropyrimidine dehydrogenase deficiency's ICD-9-CM is recorded as 277.2[8].
  • dihydropyrimidine dehydrogenase deficiency's NCI Thesaurus ID is recorded as C84672[9].
  • dihydropyrimidine dehydrogenase deficiency's NCI Thesaurus ID is recorded as C3964[10].
  • dihydropyrimidine dehydrogenase deficiency's health specialty is recorded as medical genetics[11].
  • dihydropyrimidine dehydrogenase deficiency's health specialty is recorded as endocrinology[12].
  • dihydropyrimidine dehydrogenase deficiency's genetic association is recorded as DPYD[13].
  • dihydropyrimidine dehydrogenase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14218[14].
  • dihydropyrimidine dehydrogenase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:14218[15].
  • dihydropyrimidine dehydrogenase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/HP_0003654[16].
  • dihydropyrimidine dehydrogenase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1675[17].
  • dihydropyrimidine dehydrogenase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].

Why It Matters

dihydropyrimidine dehydrogenase deficiency draws 67 Wikipedia views per month (rare_disease category, ranking #235 of 627).[2] It is known by 19 alternative names across languages and contexts.[19]

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [15] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  14. [16] ↑ . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [19] ↑ . 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). dihydropyrimidine dehydrogenase deficiency. Retrieved October 16, 2026, from https://4ort.xyz/entity/dihydropyrimidine-dehydrogenase-deficiency
MLA “dihydropyrimidine dehydrogenase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 16 Oct. 2026, https://4ort.xyz/entity/dihydropyrimidine-dehydrogenase-deficiency.
BibTeX @misc{4ortxyz_dihydropyrimidine-dehydrogenase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{dihydropyrimidine dehydrogenase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/dihydropyrimidine-dehydrogenase-deficiency}, note = {Accessed: 2026-10-16}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): dihydropyrimidine dehydrogenase deficiency — https://4ort.xyz/entity/dihydropyrimidine-dehydrogenase-deficiency (retrieved 2026-10-16)

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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. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Nci thesaurus id → C84672, C3964
    On focus list of wikimedia project → WikiProject Medicine
    Gard rare disease id → 19
    Health specialty → medical genetics, endocrinology
    + 23 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.