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combined oxidative phosphorylation deficiency

Human disease
MedicalCondition rare_disease Q18987134
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combined oxidative phosphorylation deficiency

Summary

combined oxidative phosphorylation deficiency is a rare disease[1]. It is known by 7 alternative names across languages and contexts.[2]

Key Facts

  • combined oxidative phosphorylation deficiency's instance of is recorded as rare disease[3].
  • combined oxidative phosphorylation deficiency's instance of is recorded as developmental defect during embryogenesis[4].
  • combined oxidative phosphorylation deficiency's instance of is recorded as class of disease[5].
  • combined oxidative phosphorylation deficiency is a type of mitochondrial disease[6].
  • combined oxidative phosphorylation deficiency is a type of mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies[7].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as VARS2[8].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as NARS2[9].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as EARS2[10].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as FARS2[11].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as MTO1[12].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as TARS2[13].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as LYRM4[14].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as SFXN4[15].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as MRPS22[16].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as ATP5F1A[17].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as PNPT1[18].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as GTPBP3[19].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as MRPS16[20].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as MRPL3[21].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as MTRFR[22].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as AIFM1[23].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as ELAC2[24].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as GFM1[25].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as RMND1[26].
  • combined oxidative phosphorylation deficiency's genetic association is recorded as TUFM[27].

Why It Matters

combined oxidative phosphorylation deficiency is known by 7 alternative names across languages and contexts.[2]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. wikidata.org.
  7. [9] ↑ . Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).. wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. wikidata.org.
  10. [12] ↑ . Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. wikidata.org.
  11. [13] ↑ . VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. wikidata.org.
  12. [14] ↑ . Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. wikidata.org.
  13. [15] ↑ . Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.. wikidata.org.
  14. [16] ↑ . Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. wikidata.org.
  15. [17] ↑ . Targeted exome sequencing of suspected mitochondrial disorders. wikidata.org.
  16. [18] ↑ . Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. wikidata.org.
  17. [19] ↑ . Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. wikidata.org.
  18. [20] ↑ . Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. wikidata.org.
  19. [21] ↑ . Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. wikidata.org.
  20. [22] ↑ . Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. wikidata.org.
  21. [23] ↑ . Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. wikidata.org.
  22. [24] ↑ . ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. wikidata.org.
  23. [25] ↑ . Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. wikidata.org.
  24. [26] ↑ . Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. wikidata.org.
  25. [27] ↑ . Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). combined oxidative phosphorylation deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/combined-oxidative-phosphorylation-deficiency
MLA “combined oxidative phosphorylation deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/combined-oxidative-phosphorylation-deficiency.
BibTeX @misc{4ortxyz_combined-oxidative-phosphorylation-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{combined oxidative phosphorylation deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/combined-oxidative-phosphorylation-deficiency}, note = {Accessed: 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. 13w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0018157
    Genetic association → VARS2, NARS2, EARS2 +23
    Gard rare disease id → 12893
    Orphanet id → 35696
    + 12 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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