| D008059 |
Mucopolysaccharidosis I |
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. |
Hurler's Syndrome,Hurler-Scheie Syndrome,Lipochondrodystrophy,Mucopolysaccharidosis V,Pfaundler-Hurler Syndrome,Scheie's Syndrome,Gargoylism,Gargoylism, Hurler Syndrome,Hurler Disease,Hurler Syndrome,Hurler's Disease,Mucopolysaccharidosis 1,Mucopolysaccharidosis 5,Mucopolysaccharidosis I-S,Mucopolysaccharidosis Type I,Mucopolysaccharidosis Type Ih,Mucopolysaccharidosis Type Ih S,Mucopolysaccharidosis Type Is,Scheie Syndrome,alpha-L-Iduronidase Deficiency,Disease, Hurler's,Gargoylisms,Hurler Scheie Syndrome,Hurler Syndrome Gargoylism,Lipochondrodystrophies,Mucopolysaccharidosis I S,Mucopolysaccharidosis Is,Mucopolysaccharidosis Type Ihs,Syndrome, Hurler's,Syndrome, Scheie's,Type Ih, Mucopolysaccharidosis,Type Ihs, Mucopolysaccharidosis,alpha L Iduronidase Deficiency,alpha-L-Iduronidase Deficiencies |
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| D008099 |
Liver |
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. |
Livers |
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| D008854 |
Microscopy, Electron |
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. |
Electron Microscopy |
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| D002675 |
Child, Preschool |
A child between the ages of 2 and 5. |
Children, Preschool,Preschool Child,Preschool Children |
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| D003593 |
Cytoplasm |
The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990) |
Protoplasm,Cytoplasms,Protoplasms |
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| D005260 |
Female |
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Females |
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| D006025 |
Glycosaminoglycans |
Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE). |
Glycosaminoglycan,Mucopolysaccharides |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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