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mucolipidosis

Disease Summary
Associated Targets (6)
Tchem

3

Tbio

2

Tclin

1


Mondo Description A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
Disease Ontology Description A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
Mondo Term and Equivalent IDs
MONDO:0019248:  mucolipidosis
DC:0000289: 
MESH:D009081: 
NCIT:C61267: 
Orphanet:79212: 
SCTID:70528007: 
UMLS:C0026697: