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sphingolipidosis

Summary
Synonym
  • sphingolipidoses
Definition
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Super Class
lipid storage disease
Disease Ontology
DOID:1927
Mondo Disease Ontology
MeSH
UMLS
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Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
427 ASAH1 N-acylsphingosine amidohydrolase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
45380 spin spinster
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13510 Acid ceramidase
Displaying 1 entry
UniProt ID Protein Name Source
Q9GQQ0 Protein spinster
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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: April 7, 2025