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.
ID
http://purl.bioontology.org/ontology/MESH/D009083
altLabel
Mucopolysaccharidosis
AN
lysosomal storage dis; types I through VII except V are available as main headings: V = MUCOPOLYSACCHARIDOSIS V see MUCOPOLYSACCHARIDOSIS I; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui
C0026703
DC
1
definition
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.
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