homocystinuria

amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine
MedicalCondition rare_disease Q994859
homocystinuria
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homocystinuria

Summary

homocystinuria is a rare disease[1]. homocystinuria has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • homocystinuria's instance of is recorded as rare disease[3].
  • homocystinuria's instance of is recorded as class of disease[4].
  • homocystinuria's instance of is recorded as genetic disease[5].
  • homocystinuria is a type of sulfuraminoacidemia[6].
  • homocystinuria is a type of amino acid metabolic disorder[7].
  • homocystinuria is a type of disease[8].
  • homocystinuria's Commons category is recorded as Homocystinuria[9].
  • homocystinuria's NCI Thesaurus ID is recorded as C84765[10].
  • homocystinuria's health specialty is recorded as endocrinology[11].
  • homocystinuria's health specialty is recorded as medical genetics[12].
  • homocystinuria's drug or therapy used for treatment is recorded as betaine[13].
  • homocystinuria's genetic association is recorded as CBS[14].
  • homocystinuria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_9263[15].
  • homocystinuria's exact match is recorded as http://identifiers.org/doid/DOID:9263[16].
  • homocystinuria's exact match is recorded as http://purl.obolibrary.org/obo/HP_0002156[17].
  • homocystinuria's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_394[18].
  • homocystinuria's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].

Why It Matters

homocystinuria has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[2] homocystinuria is known by 5 alternative names across languages and contexts.[20]

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] . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . NDF-RT. Retrieved . wikidata.org.
  12. [14] . Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [17] . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [20] . 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). homocystinuria. Retrieved May 3, 2026, from https://4ort.xyz/entity/homocystinuria
MLA “homocystinuria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/homocystinuria.
BibTeX @misc{4ortxyz_homocystinuria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{homocystinuria}}, year = {2026}, url = {https://4ort.xyz/entity/homocystinuria}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): homocystinuria — https://4ort.xyz/entity/homocystinuria (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. 13d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of sulfuraminoacidemia, amino acid metabolic disorder, disease
    Instance of rare disease, class of disease, genetic disease
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
  2. 15d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of sulfuraminoacidemia, amino acid metabolic disorder, disease
    On focus list of wikimedia project WikiProject Medicine
    Health specialty endocrinology, medical genetics
    Drug or therapy used for treatment betaine
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
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