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mucopolysaccharidosis type 1

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
Disease Ontology Description A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Mondo Term and Equivalent IDs
MONDO:0001586:  mucopolysaccharidosis type 1
GARD:0010335: 
NCIT:C85053: 
Orphanet:579: 
SCTID:75610003: