cytochrome-c oxidase deficiency disease

Human disease
MedicalCondition developmental_defect_during_embryogenesis Q18556069
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cytochrome-c oxidase deficiency disease

Summary

cytochrome-c oxidase deficiency disease is a developmental defect during embryogenesis[1].

Key Facts

  • cytochrome-c oxidase deficiency disease's instance of is recorded as developmental defect during embryogenesis[2].
  • cytochrome-c oxidase deficiency disease's instance of is recorded as rare disease[3].
  • cytochrome-c oxidase deficiency disease's instance of is recorded as class of disease[4].
  • cytochrome-c oxidase deficiency disease is a type of mitochondrial disease[5].
  • cytochrome-c oxidase deficiency disease is a type of isolated oxidative phosphorylation complex disorder[6].
  • cytochrome-c oxidase deficiency disease's NCI Thesaurus ID is recorded as C98910[7].
  • cytochrome-c oxidase deficiency disease's health specialty is recorded as medical genetics[8].
  • cytochrome-c oxidase deficiency disease's health specialty is recorded as endocrinology[9].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX10[10].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX2[11].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX20[12].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as SCO1[13].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX6B1[14].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX3[15].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX1[16].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as PET100[17].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COA8[18].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as SURF1[19].
  • cytochrome-c oxidase deficiency disease's exact match is recorded as http://purl.obolibrary.org/obo/DOID_3762[20].
  • cytochrome-c oxidase deficiency disease's exact match is recorded as http://identifiers.org/doid/DOID:3762[21].
  • cytochrome-c oxidase deficiency disease's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_254905[22].
  • cytochrome-c oxidase deficiency disease's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].

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] . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . Q905695. Retrieved . wikidata.org.
  11. [12] . Q905695. Retrieved . wikidata.org.
  12. [13] . Q905695. Retrieved . wikidata.org.
  13. [14] . Q905695. Retrieved . wikidata.org.
  14. [15] . Q905695. Retrieved . wikidata.org.
  15. [16] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [17] . A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [18] . Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. wikidata.org.
  18. [19] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [20] . Disease Ontology. Retrieved . wikidata.org.
  20. [21] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  21. [22] . 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). cytochrome-c oxidase deficiency disease. Retrieved May 3, 2026, from https://4ort.xyz/entity/cytochrome-c-oxidase-deficiency-disease
MLA “cytochrome-c oxidase deficiency disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cytochrome-c-oxidase-deficiency-disease.
BibTeX @misc{4ortxyz_cytochrome-c-oxidase-deficiency-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cytochrome-c oxidase deficiency disease}}, year = {2026}, url = {https://4ort.xyz/entity/cytochrome-c-oxidase-deficiency-disease}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cytochrome-c oxidase deficiency disease — https://4ort.xyz/entity/cytochrome-c-oxidase-deficiency-disease (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/cytochrome-c-oxidase-deficiency-disease · Last refreshed:

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. 2d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id MONDO_0009068
    Orphanet id 254905
    Imported from
    Subclass of mitochondrial disease, isolated oxidative phosphorylation complex disorder
    + 16 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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