Muscular Dystrophy Secondary to Mitochondrial Disorder

Preferred Label : Muscular Dystrophy Secondary to Mitochondrial Disorder;

NCIt related terms : Mitochondrial;

NCIt definition : A muscular dystrophy that was caused by a primary mitochondrial disorder.;

Alternative definition : ACC/AHA: Muscular dystrophy secondary to a mitochondrial disorder.;

Details

Origin ID

C168331;

UMLS CUI

C5238795;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily B member 10 [HGNC gene]
- ATP synthase membrane subunit f [HGNC gene]
- Mitochondrial inheritance [HPO term]
- NADH:ubiquinone oxidoreductase core subunit S1 [HGNC gene]
- NADH:ubiquinone oxidoreductase core subunit S2 [HGNC gene]
- NADH:ubiquinone oxidoreductase core subunit S3 [HGNC gene]
- NADH:ubiquinone oxidoreductase core subunit S3 [ORDO Gene]
- NADH:ubiquinone oxidoreductase core subunit S7 [HGNC gene]
- NADH:ubiquinone oxidoreductase core subunit S8 [HGNC gene]
- NADH:ubiquinone oxidoreductase core subunit V1 [HGNC gene]
- NADH:ubiquinone oxidoreductase core subunit V2 [HGNC gene]
- NADH:ubiquinone oxidoreductase subunit AB1 [HGNC gene]
- NADH:ubiquinone oxidoreductase subunit S6 [HGNC gene]
- OPA1 mitochondrial dynamin like GTPase [HGNC gene]
- TAM41 mitochondrial translocator assembly and maintenance homolog [HGNC gene]
- abhydrolase domain containing 10, depalmitoylase [HGNC gene]
- aconitase 2 [HGNC gene]
- alanyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- aspartyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
- cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [HGNC gene]
- dihydrolipoamide branched chain transacylase E2 [HGNC gene]
- glutamyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- glycerol-3-phosphate acyltransferase, mitochondrial [HGNC gene]
- heat shock protein family A (Hsp70) member 9 [HGNC gene]
- isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha [HGNC gene]
- isoleucyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- lactamase beta [HGNC gene]
- leucyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- lipoic acid synthetase [HGNC gene]
- malic enzyme 2 [HGNC gene]
- methionyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like [HGNC gene]
- mitochondrial ribosomal protein L10 [HGNC gene]
- mitochondrial ribosomal protein L36 [HGNC gene]
- mitochondrial ribosomal protein L44 [HGNC gene]
- mitochondrial ribosomal protein S17 [HGNC gene]
- mitochondrial ribosomal protein S9 [HGNC gene]
- phenylalanyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- pitrilysin metallopeptidase 1 [HGNC gene]
- pyruvate dehydrogenase E1 subunit alpha 1 [HGNC gene]
- seryl-tRNA synthetase 2, mitochondrial [HGNC gene]
- threonyl-tRNA synthetase 2, mitochondrial [HGNC gene]
- transcription factor B1, mitochondrial [HGNC gene]
- tryptophanyl tRNA synthetase 2, mitochondrial [HGNC gene]
- tyrosyl-tRNA synthetase 2 [HGNC gene]
- valyl-tRNA synthetase 2, mitochondrial [HGNC gene]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

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