| Disease Browser
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Parent Node:
 Carbohydrate Metabolism, Inborn Errors (D002239) |
Parent Node:
Mitochondrial Diseases (D028361) |
..Starting node
.. Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
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Child Nodes:
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Sister Nodes: |
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
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..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
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..Ataxia and Polyneuropathy, Adult-Onset (C564020)
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..Ataxia Neuropathy Spectrum (C579922)
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..Bjornstad syndrome (C537633)
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..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
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..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
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..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
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..Childhood Myocerebrohepatopathy Spectrum (C579990)
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..Coenzyme Q10 Deficiency (C564403)
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..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
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..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
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..Cowden-Like Syndrome (C567337)
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..Cytochrome-c Oxidase Deficiency (D030401)  2
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..Deoxyguanosine Kinase Deficiency (C580039)
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..Finnish lethal neonatal metabolic syndrome (C537934)
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..Friedreich Ataxia (D005621) 6
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..Hypermetabolism due to Defect in Mitochondria (C565498)
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..Hypomyelination, Global Cerebral (C567847)
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..Hypotonia-Cystinuria Syndrome (C564710)
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..Kearns-Sayre Syndrome (D007625) 1
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..Leigh Disease (D007888) 12
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..Leukodystrophy, Hypomyelinating, 4 (C567390)
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..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
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..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
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..Mitochondrial complex I deficiency (C537475)
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..Mitochondrial Complex II Deficiency (C565375)
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..Mitochondrial Complex III Deficiency (C565128)
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..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
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..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
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..Mitochondrial Myopathies (D017240) 33
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..Mitochondrial Phosphate Carrier Deficiency (C563665)
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..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
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..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
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..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
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..Myopathy with Giant Abnormal Mitochondria (C564971)
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..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
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..Navajo neurohepatopathy (C538344) 1
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..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
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..Optic Atrophy, Autosomal Dominant (D029241)
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..Optic Atrophy, Hereditary, Leber (D029242) 1
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..Parkinson Disease, Mitochondrial (C564015)
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..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
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..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
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..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
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..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
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..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
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..Pyruvate Carboxylase Deficiency Disease (D015324) 1
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..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
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..Sarcosinemia (C537236)
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..Spinocerebellar Ataxia with Epilepsy (C564395)
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..Succinate-Coa Ligase Deficiency (C580473)
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..VDAC Deficiency (C565767)
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..VLCAD deficiency (C536353)
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..Wolfram Syndrome 2 (C565733)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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