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mucopolysaccharidosis

Disease Summary
Associated Targets (49)
Tbio

43

Tchem

5

Tclin

1


Explore Associated Targets
Mondo Description A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
Disease Ontology Description A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
Mondo Term and Equivalent IDs
MONDO:0019249:  mucopolysaccharidosis
COHD:433446: 
GARD:0007065: 
ICD9:277.5: 
MESH:D009083: 
NCIT:C61259: 
OMIMPS:607014: 
Orphanet:79213: 
SCTID:11380006: 
UMLS:C0026703: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)