adenine phosphoribosyltransferase deficiency

amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern
MedicalCondition rare_disease Q4682223
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adenine phosphoribosyltransferase deficiency

Summary

adenine phosphoribosyltransferase deficiency is a rare disease[1]. It draws 4 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

Key Facts

  • adenine phosphoribosyltransferase deficiency's instance of is recorded as rare disease[3].
  • adenine phosphoribosyltransferase deficiency's instance of is recorded as class of disease[4].
  • adenine phosphoribosyltransferase deficiency's subclass of is recorded as inborn errors of purine–pyrimidine metabolism[5].
  • adenine phosphoribosyltransferase deficiency's subclass of is recorded as amino acid metabolic disorder[6].
  • adenine phosphoribosyltransferase deficiency's subclass of is recorded as inborn disorder of purine metabolism[7].
  • adenine phosphoribosyltransferase deficiency's subclass of is recorded as nephropathy secondary to a storage or other metabolic disease[8].
  • adenine phosphoribosyltransferase deficiency's subclass of is recorded as disease[9].
  • adenine phosphoribosyltransferase deficiency's MeSH descriptor ID is recorded as C538228[10].
  • adenine phosphoribosyltransferase deficiency's OMIM ID is recorded as 614723[11].
  • adenine phosphoribosyltransferase deficiency's ICD-9 ID is recorded as 277.2[12].
  • adenine phosphoribosyltransferase deficiency's ICD-10 ID is recorded as E79[13].
  • adenine phosphoribosyltransferase deficiency's DiseasesDB is recorded as 32632[14].
  • adenine phosphoribosyltransferase deficiency's KEGG ID is recorded as H00195[15].
  • adenine phosphoribosyltransferase deficiency's Disease Ontology ID is recorded as DOID:0060350[16].
  • adenine phosphoribosyltransferase deficiency's Orphanet ID is recorded as 976[17].
  • adenine phosphoribosyltransferase deficiency's NCI Thesaurus ID is recorded as C121564[18].
  • adenine phosphoribosyltransferase deficiency's health specialty is recorded as endocrinology[19].
  • adenine phosphoribosyltransferase deficiency's genetic association is recorded as APRT[20].
  • adenine phosphoribosyltransferase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060350[21].
  • adenine phosphoribosyltransferase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0060350[22].
  • adenine phosphoribosyltransferase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_976[23].
  • adenine phosphoribosyltransferase deficiency's UMLS CUI is recorded as C0268120[24].
  • adenine phosphoribosyltransferase deficiency's UMLS CUI is recorded as C3665382[25].
  • adenine phosphoribosyltransferase deficiency's ICD-10-CM is recorded as E79.8[26].
  • adenine phosphoribosyltransferase deficiency's PatientsLikeMe condition ID is recorded as adenine-phosphoribosyltransferase-deficiency[27].

Why It Matters

adenine phosphoribosyltransferase deficiency draws 4 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

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] . 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] . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] . Disease Ontology. Retrieved . wikidata.org.
  20. [22] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . Disease Ontology. Retrieved . wikidata.org.
  23. [25] . Disease Ontology. Retrieved . wikidata.org.
  24. [26] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  25. [27] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.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). adenine phosphoribosyltransferase deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/adenine-phosphoribosyltransferase-deficiency
MLA “adenine phosphoribosyltransferase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/adenine-phosphoribosyltransferase-deficiency.
BibTeX @misc{4ortxyz_adenine-phosphoribosyltransferase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{adenine phosphoribosyltransferase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/adenine-phosphoribosyltransferase-deficiency}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): adenine phosphoribosyltransferase deficiency — https://4ort.xyz/entity/adenine-phosphoribosyltransferase-deficiency (retrieved 2026-05-03)

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