Disease Browser
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Parent Node: Mitochondrial Myopathies (D017240) | ..Starting node ..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
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Sister Nodes: | ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
| ..Mitochondrial cytopathy (C540770)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
| ..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
| ..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
| ..Mitochondrial Encephalomyopathies (D017237) 13
| ..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
| ..Mitochondrial Myopathy with Diabetes (C564026)
| ..Mitochondrial myopathy with lactic acidosis (C537476)
| ..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
| ..Myopathy, Mitochondrial, Lethal Infantile (C564017)
| ..Neuropathy ataxia and retinis pigmentosa (C537396)
| ..Ophthalmoplegia, Chronic Progressive External (D017246) 7
| ..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7328 |
Name: | Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D017240 |
TreeNumbers: | C05.651.460/C565376 |C10.668.491.500/C565376 |C18.452.660.560/C565376 |
Synonyms: | |
Slim Mappings: | Metabolic disease|Musculoskeletal disease|Nervous system disease |
Reference: |
MedGen: C565376
MeSH: C565376
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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