ONKI3 | Medical Subject Headings


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Musculoskeletal Diseases ∟ Muscular Diseases ∟ Mitochondrial Myopathies ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Epilepsy ∟ Epilepsies, Myoclonic ∟ Myoclonic Epilepsies, Progressive ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neuromuscular Diseases ∟ Muscular Diseases ∟ Mitochondrial Myopathies ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Mitochondrial Myopathies ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome 25 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cerebral Amyloid Angiopathy, Familial \| ∟ Citrullinemia \| ∟ Galactosemias \| ∟ Hartnup Disease \| ∟ Hepatolenticular Degeneration \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperlysinemias \| ∟ Leigh Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Maple Syrup Urine Disease \| ∟ MELAS Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias \| ∟ Lafora Disease \| ∟ Unverricht-Lundborg Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Musculoskeletal Diseases ∟ Muscular Diseases ∟ Mitochondrial Myopathies ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Epilepsy ∟ Epilepsies, Myoclonic ∟ Myoclonic Epilepsies, Progressive ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neuromuscular Diseases ∟ Muscular Diseases ∟ Mitochondrial Myopathies ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ MERRF Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Mitochondrial Myopathies ∟ Mitochondrial Encephalomyopathies ∟ MERRF Syndrome Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Mitochondrial Encephalomyopathies > Mitochondrial Myopathies > Muscular Diseases > Musculoskeletal Diseases > Medical Subject Headings (MeSH) Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Mitochondrial Encephalomyopathies > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Myoclonic Epilepsies, Progressive > Epilepsies, Myoclonic > Epilepsy > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Mitochondrial Encephalomyopathies > Mitochondrial Myopathies > Muscular Diseases > Neuromuscular Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Mitochondrial Encephalomyopathies > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Mitochondrial Encephalomyopathies > Mitochondrial Myopathies > Mitochondrial Diseases > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Annotation:	DF: MERRF X
History note:	Epilepsy, Myoclonic (1980-1992) \| Mitochondria, Muscle (1980-1992)X
historyNote*:	1993 X
publicMeSHNote*:	1993 X
Scope note:	A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986) X
activeMeSHYear*:	2007X
dateCreated*:	1992-05-22X
dateEstablished*:	1993-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	TGCX
Type:	Concept X
Coordinate terms:	Carbamoyl-Phosphate Synthase I Deficiency Disease \| Cerebral Amyloid Angiopathy, Familial \| Citrullinemia \| Galactosemias \| Hartnup Disease \| Hepatolenticular Degeneration \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperlysinemias \| Leigh Disease \| Lesch-Nyhan Syndrome \| Lysosomal Storage Diseases, Nervous System \| Maple Syrup Urine Disease \| MELAS Syndrome \| Menkes Kinky Hair Syndrome \| Oculocerebrorenal Syndrome \| Ornithine Carbamoyltransferase Deficiency Disease \| Peroxisomal Disorders \| Phenylketonurias \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease \| Tyrosinemias \| Lafora Disease \| Unverricht-Lundborg Syndrome X
URI:	X
Labels and equivalent concepts:	MERFF-oireyhtymä (fi) MERFF-syndrooma (fi, replaced) Fukuharan tauti (fi, replaced) MERRF-syndrom (sv) Myoclonic Epilepsy with Ragged Red Fibers (en, replaced) Fukuhara Syndrome (en, replaced) Myoclonic Epilepsy and Ragged Red Fibers (en, replaced) Fukuhara Disease (en, replaced) Morbus Fukuhara (la-FI, replaced) X
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