ONKI3 | MedIEQ: Medical Subject Headings

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The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Brain Diseases, Metabolic, Inborn

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn 21 coordinate concepts 24 subordinate 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 \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias ∟ Hepatic Encephalopathy \| ∟ Kernicterus \| ∟ Mitochondrial Encephalomyopathies \| ∟ Myelinolysis, Central Pontine \| ∟ Reye Syndrome \| ∟ Wernicke Encephalopathy \| ∟ Amino Acid Metabolism, Inborn Errors \| ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Progeria \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn 21 coordinate concepts 24 subordinate 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 \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias ∟ Hepatic Encephalopathy \| ∟ Kernicterus \| ∟ Mitochondrial Encephalomyopathies \| ∟ Myelinolysis, Central Pontine \| ∟ Reye Syndrome \| ∟ Wernicke Encephalopathy \| ∟ Amino Acid Metabolism, Inborn Errors \| ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Progeria \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn 21 coordinate concepts 24 subordinate 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 \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias ∟ Hepatic Encephalopathy \| ∟ Kernicterus \| ∟ Mitochondrial Encephalomyopathies \| ∟ Myelinolysis, Central Pontine \| ∟ Reye Syndrome \| ∟ Wernicke Encephalopathy \| ∟ Amino Acid Metabolism, Inborn Errors \| ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Progeria \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn 21 coordinate concepts 24 subordinate 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 \| ∟ MERRF Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Peroxisomal Disorders \| ∟ Phenylketonurias \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Tyrosinemias ∟ Hepatic Encephalopathy \| ∟ Kernicterus \| ∟ Mitochondrial Encephalomyopathies \| ∟ Myelinolysis, Central Pontine \| ∟ Reye Syndrome \| ∟ Wernicke Encephalopathy \| ∟ Amino Acid Metabolism, Inborn Errors \| ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Progeria \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Narrower 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 \| MERRF Syndrome \| Oculocerebrorenal Syndrome \| Ornithine Carbamoyltransferase Deficiency Disease \| Peroxisomal Disorders \| Phenylketonurias \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease \| Tyrosinemias X
Annotation:	General, prefer specifics; DF: BRAIN DIS METAB INBORN X
History note:	Brain/metabolism (1968-1999) \| Hereditary Diseases (1968-1999) \| Metabolic Diseases/genetics (1968-1999) \| Metabolism, Inborn Errors (1972-1999)X
historyNote*:	2000 X
publicMeSHNote*:	2000 X
Scope note:	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. X
activeMeSHYear*:	2007X
dateCreated*:	1999-11-03X
dateEstablished*:	2000-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	KEVX
Related term:	Mental Retardation X
Type:	Concept X
Coordinate terms:	Hepatic Encephalopathy \| Kernicterus \| Mitochondrial Encephalomyopathies \| Myelinolysis, Central Pontine \| Reye Syndrome \| Wernicke Encephalopathy \| Amino Acid Metabolism, Inborn Errors \| Amino Acid Transport Disorders, Inborn \| Amyloidosis, Familial \| Carbohydrate Metabolism, Inborn Errors \| Cytochrome-c Oxidase Deficiency \| Hyperbilirubinemia, Hereditary \| Lipid Metabolism, Inborn Errors \| Lysosomal Storage Diseases \| Metal Metabolism, Inborn Errors \| Peroxisomal Disorders \| Porphyrias \| Progeria \| Purine-Pyrimidine Metabolism, Inborn Errors \| Renal Tubular Transport, Inborn Errors \| Steroid Metabolism, Inborn Errors X
URI:	X
Labels and equivalent concepts:	Synnynnäiset metaboliset aivosairaudet (fi) Metabolic Diseases, Inborn, Brain (en, replaced) Metabolic Diseases, Inborn, Central Nervous System (en, replaced) Metabolic Disorders, Brain, Inherited (en, replaced) Metabolic Brain Syndrome, Inborn (en, replaced) Metabolic Brain Diseases, Inherited (en, replaced) Metabolic Brain Diseases, Familial (en, replaced) Metabolic Brain Diseases, Inborn (en, replaced) Metabolic Disorders, CNS, Inborn (en, replaced) Metabolic Disorders, Familial, Brain (en, replaced) Inherited Metabolic Disorders, Brain (en, replaced) Inherited Metabolic Brain Diseases (en, replaced) Brain Syndrome, Metabolic, Inborn (en, replaced) Central Nervous System Inborn Metabolic Disorders (en, replaced) Brain Diseases, Metabolic, Familial (en, replaced) CNS Metabolic Disorders, Inborn (en, replaced) Encephalopathies, Metabolic, Inborn (en, replaced) Inborn Metabolic Brain Disorders (en, replaced) Inborn Metabolic Disorders, Brain (en, replaced) Inborn Metabolic Brain Diseases (en, replaced) Inborn Errors of Metabolism, Brain (en, replaced) Familial Metabolic Brain Diseases (en, replaced) Familial Metabolic Disorders, Brain (en, replaced) Encefalopatías Metabólicas Innatas (es) Hirnkrankheiten, metabolische, angeborene (de) mozek - nemoci metabolické vrozené (cs) Enfermedades Metabólicas Innatas del Sistema Nervioso Central (es, replaced) Errores Innatos del Metabolismo Encefálico (es, replaced) Enfermedades Metabólicas Innatas del Encéfalo (es, replaced) Enfermedades Metabólicas Familiares del Encéfalo (es, replaced) Encefalopatías Innatas del Metabolismo (es, replaced) Enfermedades Encefálicas Metabólicas Innatas (es, replaced) Zentralnervensystem, angeborene Stoffwechselkrankheiten (de, replaced) Familiäre Stoffwechselkrankheiten des Gehirns (de, replaced) Stoffwechselkrankheiten, angeborene, Gehirn (de, replaced) Angeborene Stoffwechselkrankheiten, Gehirn (de, replaced) X
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