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mitochondrial complex V (ATP synthase) deficiency nuclear type 2

mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21
MedicalCondition developmental_defect_during_embryogenesis Q19587393
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Summary

mitochondrial complex V (ATP synthase) deficiency nuclear type 2 is a developmental defect during embryogenesis[1]. It is known by 11 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: rare disease[3], class of disease[4]
  • Subclass of: mitochondrial complex V (ATP synthase) deficiency[5], mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes[6], genetic disease[7]
  • Health specialty: neurology[8]
  • Genetic association: TMEM70[9]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0060331[10], http://identifiers.org/doid/DOID:0060331[11], http://www.orpha.net/ORDO/Orphanet_1194[12]
  • On focus list of Wikimedia project: WikiProject Medicine[13]

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . 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). mitochondrial complex V (ATP synthase) deficiency nuclear type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2
MLA “mitochondrial complex V (ATP synthase) deficiency nuclear type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2.
BibTeX @misc{4ortxyz_mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{mitochondrial complex V (ATP synthase) deficiency nuclear type 2}}, year = {2026}, url = {https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): mitochondrial complex V (ATP synthase) deficiency nuclear type 2 — https://4ort.xyz/entity/mitochondrial-complex-v-atp-synthase-deficiency-nuclear-type-2 (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. 14w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0013546
    Genetic association → TMEM70
    Orphanet id → 1194
    Uniprot disease id → DI-03147
    + 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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