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primary hyperoxaluria type I

human disease
Class type of: disorder of peroxisomal alpha-, beta- and omega-oxidation, primary hyperoxaluria Q54320724

Facts

9 properties
Instance of
class of disease
Subclass of
disorder of peroxisomal alpha-, beta- and omega-oxidation, primary hyperoxaluria
Age of onset
any age[8]
Genetic association
AGXT[7]
Has phenotype
kidney failure, nephrocalcinosis, hyperoxaluria, nephrolithiasis, anemia, calcinosis, hematuria, failure to thrive, dysuria, urinary tract infection, enuresis, Stage 5 chronic kidney disease, tooth abnormality, stroke[9][10][11][12][13][14][15][16][17][18][19][20][21][22]
ICD-9-CM
271.8[5]
NCI Thesaurus ID
C123212[6]
P14914
D93598[23]
Prevalence
+0.000005[4]
🏷️ Also known as
en Alanine-Glyoxylate Aminotransferase Deficiency en Glycolic aciduria en gylcolytic aciduria en Hepatic Agt Deficiency en HP1 en HYPEROXALURIA, PRIMARY, TYPE I en HYPEROXALURIA, PRIMARY, TYPE I; HP1 en Oxalosis 1 en oxalosis I en Peroxisomal alanine glyoxylate aminotransferase deficiency en Peroxisomal alanine-glyoxylate aminotransferase deficiency en Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency en primary hyperoxaluria type 1 en primary hyperoxaluria type I en serine:pyruvate aminotransferase deficiency en Serine pyruvate aminotransferase deficiency fr hyperoxalurie type 1
🔖 Identifiers · 12
Disease Ontology ID
DOID:0111670
Exact match
www.orpha.net, www.orpha.net, purl.obolibrary.org, identifiers.org
GARD rare disease ID
2835
ICD-10-CM
E74.8
ICD-11 ID (Foundation)
692812009
ICD-11 ID (MMS)
5C51.20
MeSH descriptor ID
C536414
Mondo ID
MONDO_0009823
OMIM ID
259900
Orphanet ID
93598
UMLS CUI
C0268164
UniProt disease ID
DI-01778

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Summary

primary hyperoxaluria type I is a class of disease[1]. It is a type of disorder of peroxisomal alpha-, beta- and omega-oxidation[2] and primary hyperoxaluria[3].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). primary hyperoxaluria type I. Retrieved October 24, 2026, from https://4ort.xyz/entity/primary-hyperoxaluria-type-i
MLA “primary hyperoxaluria type I.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/primary-hyperoxaluria-type-i.
BibTeX @misc{4ortxyz_primary-hyperoxaluria-type-i_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{primary hyperoxaluria type I}}, year = {2026}, url = {https://4ort.xyz/entity/primary-hyperoxaluria-type-i}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): primary hyperoxaluria type I — https://4ort.xyz/entity/primary-hyperoxaluria-type-i (retrieved 2026-10-24)

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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. 14d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    UniProt disease ID → DI-01778
    MeSH descriptor ID → C536414
    Mondo ID → MONDO_0009823
    Instance of → class of disease
    + 20 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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