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mucopolysaccharidosis type 4

Disease Summary
Associated Targets (37)
Tbio

32

Tchem

4

Tclin

1


Explore Associated Targets
Mondo Description Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.
Disease Ontology Description A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Mondo Term and Equivalent IDs
MONDO:0018938:  mucopolysaccharidosis type 4
GARD:0012562: 
NCIT:C61263: 
Orphanet:582: 
SCTID:378007: 
UMLS:C0026707: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)