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gangliosidosis

Disease Summary
Associated Targets (7)
Tchem

4

Tbio

2

Tdark

1


GARD Rare
Mondo Description A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Disease Ontology Description A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
Mondo Term and Equivalent IDs
MONDO:0017719:  gangliosidosis
GARD:0012510: 
Orphanet:309144: 
SCTID:50967008: 
UMLS:C0017083: