serw-MX  [xml]  

 DeCS Categories

C10 Nervous System Diseases .
C10.597 Neurologic Manifestations .
C10.597.606 Neurobehavioral Manifestations .
C10.597.606.643 Intellectual Disability .
C10.597.606.643.455 Mental Retardation, X-Linked .
C10.597.606.643.455.750 Mucopolysaccharidosis II .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.500 Mental Retardation, X-Linked .
C16.320.322.500.750 Mucopolysaccharidosis II .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.525 Mental Retardation, X-Linked .
C16.320.400.525.750 Mucopolysaccharidosis II .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.715 Mucopolysaccharidoses .
C16.320.565.202.715.640 Mucopolysaccharidosis I .
C16.320.565.202.715.645 Mucopolysaccharidosis II .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.600 Mucopolysaccharidoses .
C16.320.565.595.600.640 Mucopolysaccharidosis I .
C16.320.565.595.600.645 Mucopolysaccharidosis II .
C17 Skin and Connective Tissue Diseases .
C17.300 Connective Tissue Diseases .
C17.300.550 Mucinoses .
C17.300.550.575 Mucopolysaccharidoses .
C17.300.550.575.640 Mucopolysaccharidosis I .
C17.300.550.575.645 Mucopolysaccharidosis II .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.715 Mucopolysaccharidoses .
C18.452.648.202.715.640 Mucopolysaccharidosis I .
C18.452.648.202.715.645 Mucopolysaccharidosis II .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.600 Mucopolysaccharidoses .
C18.452.648.595.600.640 Mucopolysaccharidosis I .
C18.452.648.595.600.645 Mucopolysaccharidosis II .
D09 Carbohydrates .
D09.400 Glycoconjugates .
D09.400.420 Glycopeptides .
D09.698 Polysaccharides .
D09.698.373 Glycosaminoglycans .
D12 Amino Acids, Peptides, and Proteins .
D12.644 Peptides .
D12.644.233 Glycopeptides .
D12.776 Proteins .
D12.776.395 Glycoproteins .
D12.776.395.560 Mucoproteins .
 Synonyms & Historicals
Mucoproteins .
Conjugated proteins in which mucopolysaccharides are combined with proteins. The mucopolysaccharide moiety is the predominant group with the protein making up only a small percentage of the total weight. .
Glycosaminoglycans .
Mucopolysaccharides .
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). .
Mucopolysaccharidoses .
Mucopolysaccharidosis .
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. .
Mucopolysaccharidosis I .
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 .
Hurler's Syndrome .
Pfaundler-Hurler Syndrome .
Lipochondrodystrophy .
Hurler-Scheie Syndrome .
Mucopolysaccharidosis V .
Scheie's Syndrome .
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. .
Glycopeptides .
Proteins which contain carbohydrate groups attached covalently to the polypeptide chain. The protein moiety is the predominant group with the carbohydrate making up only a small percentage of the total weight. .
Mucopolysaccharidosis II .
Hunter Syndrome .
Hunter Syndrome Gargoylism .
I2S Deficiency .
Mucopolysaccharidosis 2 .
Mucopolysaccharidosis Type 2 .
Mucopolysaccharidosis Type II .
Deficiency, I2S .
Deficiency, Iduronate 2-Sulfatase .
Deficiency, Iduronate Sulfatase .
Deficiency, Sulfoiduronate Sulfatase .
Hunters Syndrome .
Iduronate 2 Sulfatase Deficiency .
Syndrome, Hunter .
Syndrome, Hunter's .
Gargoylism, Hunter Syndrome .
Hunter's Syndrome .
Iduronate 2-Sulfatase Deficiency .
Iduronate Sulfatase Deficiency .
Sulfoiduronate Sulfatase Deficiency .
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. .