| Metadata | |
|---|---|
| ID | DOID:1927 |
| Name | sphingolipidosis |
| Definition | A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. https://en.wikipedia.org/wiki/Sphingolipidoses, https://www.ncbi.nlm.nih.gov/pubmed/28857617 |
| Xrefs |
SNOMEDCT_US_2023_03_01:58459009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
sphingolipidoses [EXACT] |
| Parent Relationships |