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cystathioninuria

amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
MedicalCondition class_of_disease Q5201186
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cystathioninuria

Summary

cystathioninuria is a class of disease[1].

Key Facts

  • cystathioninuria's instance of is recorded as class of disease[2].
  • cystathioninuria is a type of sulfuraminoacidemia[3].
  • cystathioninuria is a type of amino acid metabolic disorder[4].
  • cystathioninuria is a type of genetic disease[5].
  • cystathioninuria's NCI Thesaurus ID is recorded as C129070[6].
  • cystathioninuria's health specialty is recorded as medical genetics[7].
  • cystathioninuria's genetic association is recorded as CTH[8].
  • cystathioninuria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090142[9].
  • cystathioninuria's exact match is recorded as http://identifiers.org/doid/DOID:0090142[10].
  • cystathioninuria's exact match is recorded as http://purl.obolibrary.org/obo/HP_0003153[11].
  • cystathioninuria's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_212[12].
  • cystathioninuria'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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  10. [11] ↑ . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  11. [12] ↑ . 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). cystathioninuria. Retrieved May 3, 2026, from https://4ort.xyz/entity/cystathioninuria
MLA “cystathioninuria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cystathioninuria.
BibTeX @misc{4ortxyz_cystathioninuria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cystathioninuria}}, year = {2026}, url = {https://4ort.xyz/entity/cystathioninuria}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cystathioninuria — https://4ort.xyz/entity/cystathioninuria (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. 16d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Nci thesaurus id → C129070
    On focus list of wikimedia project → WikiProject Medicine
    Gard rare disease id → 2428
    Health specialty → medical genetics
    + 20 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
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