| D009083 |
Mucopolysaccharidoses |
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 |
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| D009087 |
Mucopolysaccharidosis VI |
Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). |
Maroteaux-Lamy Syndrome,Polydystrophic Dwarfism,ARSB Deficiency,Arylsulfatase B Deficiency,Mucopolysaccharidosis 6,Mucopolysaccharidosis Type 6,Mucopolysaccharidosis Type VI,N-Acetylgalactosamine-4-Sulfatase Deficiency,ARSB Deficiencies,Arylsulfatase B Deficiencies,Deficiencies, ARSB,Deficiencies, Arylsulfatase B,Deficiencies, N-Acetylgalactosamine-4-Sulfatase,Deficiency, ARSB,Deficiency, Arylsulfatase B,Deficiency, N-Acetylgalactosamine-4-Sulfatase,Dwarfism, Polydystrophic,Maroteaux Lamy Syndrome,N-Acetylgalactosamine-4-Sulfatase Deficiencies,Syndrome, Maroteaux-Lamy,Type 6, Mucopolysaccharidosis,Type VI, Mucopolysaccharidosis |
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| D010375 |
Pedigree |
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. |
Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical |
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| D002460 |
Cell Line |
Established cell cultures that have the potential to propagate indefinitely. |
Cell Lines,Line, Cell,Lines, Cell |
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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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| D005260 |
Female |
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Females |
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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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| D001192 |
Arylsulfatases |
Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1. |
Arylsulfatase,Arylsulfate Sulfohydrolase,Arylsulfate Sulfohydrolases,Arylsulphatase,Arylsulphatases,Pseudo Arylsulfatase A,Sulfohydrolase, Arylsulfate |
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