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loading...| Preferred Name | Sphingolipidoses [Disease/Finding] | |
| Synonyms |
Sphingolipid Storage Diseases Sphingolipidosis Sphingolipidoses |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002791 |
|
| altLabel |
Sphingolipid Storage Diseases Sphingolipidosis Sphingolipidoses |
|
| cui |
C0037899 |
|
| MESH DEFINITION |
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
|
| MESH DUI |
D013106 |
|
| MeSH name |
Sphingolipidoses |
|
| MESH UI |
M0020298 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002791 |
|
| NUI |
N0000002791 |
|
| prefLabel |
Sphingolipidoses [Disease/Finding] |
|
| SNOMED CID |
238028008 |
|
| tui |
T047 |
|
| subClassOf |
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