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sialuria

lysosomal storage disease characterized by increased sialic acid in the urine
MedicalCondition rare_disease Q7506696
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sialuria

Summary

sialuria is a rare disease[1].

Key Facts

  • sialuria's instance of is recorded as rare disease[2].
  • sialuria's instance of is recorded as class of disease[3].
  • sialuria is a type of lysosomal storage disease[4].
  • sialuria is a type of disorder of sialic acid metabolism[5].
  • sialuria's NCI Thesaurus ID is recorded as C85067[6].
  • sialuria's health specialty is recorded as neurology[7].
  • sialuria's health specialty is recorded as medical genetics[8].
  • sialuria's health specialty is recorded as endocrinology[9].
  • sialuria's genetic association is recorded as GNE[10].
  • sialuria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_3659[11].
  • sialuria's exact match is recorded as http://identifiers.org/doid/DOID:3659[12].
  • sialuria's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].

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] ↑ . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] ↑ . 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). sialuria. Retrieved May 3, 2026, from https://4ort.xyz/entity/sialuria
MLA “sialuria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/sialuria.
BibTeX @misc{4ortxyz_sialuria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{sialuria}}, year = {2026}, url = {https://4ort.xyz/entity/sialuria}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): sialuria — https://4ort.xyz/entity/sialuria (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. 21d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Nci thesaurus id → C85067
    On focus list of wikimedia project → WikiProject Medicine
    Gard rare disease id → 10870
    Health specialty → neurology, medical genetics, endocrinology
    + 20 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.