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mucopolysaccharidosis type 3

Disease Summary
Associated Targets (5)
Tbio

5


GARD Rare
Mondo Description Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.
Disease Ontology Description A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Mondo Term and Equivalent IDs
MONDO:0018937:  mucopolysaccharidosis type 3
GARD:0003807: 
NCIT:C61262: 
Orphanet:581: 
SCTID:88393000: 
UMLS:C0026706: 
UMLS:CN205330: