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Standards Ontologies Notations
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
NCI Thesaurus
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
427 ASAH1 N-acylsphingosine amidohydrolase 1
83985 SPNS1 SPNS lysolipid transporter 1, lysophospholipid
124976 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate
Displaying 1 entry
Gene ID Gene Symbol Description Source
11886 Asah1 N-acylsphingosine amidohydrolase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84431 Asah1 N-acylsphingosine amidohydrolase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
45380 spin spinster
Displaying all 2 entries
Gene ID Gene Symbol Description Source
173120 asah-1 Acid ceramidase subunit beta
185021 asah-2 putative acid ceramidase
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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: December 9, 2024