Details of Disease | DrugMAP

General Information of Disease (ID: DIS5YQT0)

Disease Name	Autosomal dominant mitochondrial myopathy with exercise intolerance
Synonyms	myopathy, isolated mitochondrial, autosomal dominant; IMMD
Disease Hierarchy	DIS9SA7V: Mitochondrial myopathy DISSE3BW: Metabolic myopathy DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS5YQT0: Autosomal dominant mitochondrial myopathy with exercise intolerance
Disease Identifiers	MONDO ID MONDO_0014532 UMLS CUI C4015513 OMIM ID 616209 MedGen ID 863950 Orphanet ID 457050 SNOMED CT ID 1222644009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHCHD10	OTCDHAM6	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.