Ontologiesccoclasses252940   
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Mucopolysaccharidosis 3DImported
http://identifiers.org/omim/252940

(MPS3D) - A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years - severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

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class Information
alternative label

MPS3D

preferred label

Mucopolysaccharidosis 3D

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