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 ∟ Lysosomal Storage Diseases ∟ Cystinosis 4 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cystinosis 4 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Lysosomal Storage Diseases, Nervous System \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucopolysaccharidoses X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cystinosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Cystinosis Lysosomal Storage Diseases > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Lysosomal Storage Diseases > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Scope note:	A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Cholesterol Ester Storage Disease \| Lysosomal Storage Diseases, Nervous System \| Mannosidase Deficiency Diseases \| Mucopolysaccharidoses X
URI:	X
Labels and equivalent concepts:	Kystinoosi (fi) Systinoosi (fi, replaced) Cystinos (sv) Cystinosis (la-FI, replaced) X
Share:	X