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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Myopathies (D017240)
..Starting node ..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
Child Nodes:
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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7322
Name:	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
Definition:
Alternative IDs:
ParentIDs:	MESH:D008661\|MESH:D017240
TreeNumbers:	C05.651.460/C567624 \|C10.668.491.500/C567624 \|C16.320.565/C567624 \|C18.452.648/C567624 \|C18.452.660.560/C567624
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C567624 MeSH: C567624 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants