ONKI3 | Medical Subject Headings

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Alkaptonuria 13 coordinate concepts ∟ Albinism \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Alkaptonuria 13 coordinate concepts ∟ Albinism \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Alkaptonuria Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Alkaptonuria Amino Acid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Amino Acid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Scope note:	An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Albinism \| Carbamoyl-Phosphate Synthase I Deficiency Disease \| Citrullinemia \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperhomocysteinemia \| Hyperlysinemias \| Maple Syrup Urine Disease \| Multiple Carboxylase Deficiency \| Ornithine Carbamoyltransferase Deficiency Disease \| Phenylketonurias \| Tyrosinemias X
URI:	X
Labels and equivalent concepts:	Alkaptonivirtsaisuus (fi, replaced) Alkaptonuri (sv) Alkaptonuria (la-FI, replaced) X
Share:	X