autosomal dominant mitochondrial myopathy with exercise intolerance

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55784870

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autosomal dominant mitochondrial myopathy with exercise intolerance

Summary

autosomal dominant mitochondrial myopathy with exercise intolerance is a developmental defect during embryogenesis^[1].

Key Facts

autosomal dominant mitochondrial myopathy with exercise intolerance's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal dominant mitochondrial myopathy with exercise intolerance's instance of is recorded as rare disease^[3].
autosomal dominant mitochondrial myopathy with exercise intolerance's instance of is recorded as class of disease^[4].
autosomal dominant mitochondrial myopathy with exercise intolerance's subclass of is recorded as metabolic myopathy^[5].
autosomal dominant mitochondrial myopathy with exercise intolerance's subclass of is recorded as mitochondrial oxidative phosphorylation disorder with no known mechanism^[6].
autosomal dominant mitochondrial myopathy with exercise intolerance's subclass of is recorded as rare genetic developmental defect during embryogenesis^[7].
autosomal dominant mitochondrial myopathy with exercise intolerance's subclass of is recorded as neurometabolic disease^[8].
autosomal dominant mitochondrial myopathy with exercise intolerance's OMIM ID is recorded as 616209^[9].
autosomal dominant mitochondrial myopathy with exercise intolerance's Orphanet ID is recorded as 457050^[10].
autosomal dominant mitochondrial myopathy with exercise intolerance's genetic association is recorded as CHCHD10^[11].
autosomal dominant mitochondrial myopathy with exercise intolerance's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_457050^[12].
autosomal dominant mitochondrial myopathy with exercise intolerance's UMLS CUI is recorded as C4015513^[13].
autosomal dominant mitochondrial myopathy with exercise intolerance's ICD-10-CM is recorded as G71.3^[14].
autosomal dominant mitochondrial myopathy with exercise intolerance's Mondo ID is recorded as MONDO_0014532^[15].
autosomal dominant mitochondrial myopathy with exercise intolerance's UniProt disease ID is recorded as DI-04333^[16].

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Quick Facts

Instance of developmental defect during embryogenesis, rare disease, class of disease

Subclass of metabolic myopathy, mitochondrial oxidative phosphorylation disorder with no known mechanism, rare genetic developmental defect during embryogenesis, neurometabolic disease

Properties

Exact match www.orpha.net

Genetic association CHCHD10

Imported from wholeness_audit_2026-05-02

External References (6)

Icd-10-cm G71.3

Mondo id MONDO_0014532

Omim id 616209

Orphanet id 457050

Umls cui C4015513

Uniprot disease id DI-04333

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — subclass of (P279): metabolic myopathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — subclass of (P279): mitochondrial oxidative phosphorylation disorder with no known mechanism. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — subclass of (P279): rare genetic developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — subclass of (P279): neurometabolic disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — OMIM ID (P492): 616209. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — Orphanet ID (P1550): 457050. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — genetic association (P2293): CHCHD10. Q905695. Retrieved 2019-08-13. wikidata.org.
[12] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_457050. wikidata.org.
[13] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — UMLS CUI (P2892): C4015513. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[14] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — ICD-10-CM (P4229): G71.3. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[15] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — Mondo ID (P5270): MONDO_0014532. wikidata.org.
[16] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance — UniProt disease ID (P11430): DI-04333. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant mitochondrial myopathy with exercise intolerance is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. 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). autosomal dominant mitochondrial myopathy with exercise intolerance. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance

MLA

“autosomal dominant mitochondrial myopathy with exercise intolerance.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance.

BibTeX

@misc{4ortxyz_autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant mitochondrial myopathy with exercise intolerance}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant mitochondrial myopathy with exercise intolerance — https://4ort.xyz/entity/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance · Last refreshed: May 3, 2026