gangliosidosis

Summary
Definition
A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
Super Class
autosomal recessive disease sphingolipidosis
External Links
Disease Ontology
DOID:2368
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3073 HEXA hexosaminidase subunit alpha
3074 HEXB hexosaminidase subunit beta
4860 PNP purine nucleoside phosphorylase
10724 OGA O-GlcNAcase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024