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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's subclass of is recorded as mitochondrial disease[5].
  • cytochrome-c oxidase deficiency disease's subclass of is recorded as isolated oxidative phosphorylation complex disorder[6].
  • cytochrome-c oxidase deficiency disease's MeSH descriptor ID is recorded as D030401[7].
  • cytochrome-c oxidase deficiency disease's OMIM ID is recorded as 220110[8].
  • cytochrome-c oxidase deficiency disease's KEGG ID is recorded as H01368[9].
  • cytochrome-c oxidase deficiency disease's MeSH tree code is recorded as C16.320.565.240[10].
  • cytochrome-c oxidase deficiency disease's MeSH tree code is recorded as C18.452.660.195[11].
  • cytochrome-c oxidase deficiency disease's Disease Ontology ID is recorded as DOID:3762[12].
  • cytochrome-c oxidase deficiency disease's Orphanet ID is recorded as 254905[13].
  • cytochrome-c oxidase deficiency disease's NCI Thesaurus ID is recorded as C98910[14].
  • cytochrome-c oxidase deficiency disease's health specialty is recorded as medical genetics[15].
  • cytochrome-c oxidase deficiency disease's health specialty is recorded as endocrinology[16].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX10[17].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX2[18].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX20[19].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as SCO1[20].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX6B1[21].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX3[22].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COX1[23].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as PET100[24].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as COA8[25].
  • cytochrome-c oxidase deficiency disease's genetic association is recorded as SURF1[26].

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . Q905695. Retrieved . wikidata.org.
  17. [18] ↑ . Q905695. Retrieved . wikidata.org.
  18. [19] ↑ . Q905695. Retrieved . wikidata.org.
  19. [20] ↑ . Q905695. Retrieved . wikidata.org.
  20. [21] ↑ . Q905695. Retrieved . wikidata.org.
  21. [22] ↑ . Q905695. Retrieved . wikidata.org.
  22. [23] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [24] ↑ . A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  24. [25] ↑ . Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. wikidata.org.
  25. [26] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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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)

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