Cholesterol Ester Storage Disease
Disease ID: disease_node_8137
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:12099, MESH:D015217, MIM:278000, ORDO:75234, SNOMEDCT_US_2023_03_01:57218003, UMLS_CUI:C0008384 |
|---|---|
| Subclassof | DOID_0080217 |
| Data Source | DOID, MESH |
| Synonyms | CESD, partial LAL deficiency, partial LIPA deficiency, partial cholesterol ester hydrolase deficiency, partial lysosomal acid lipase deficiency |
| Mesh Id | D015217 |
| Mesh Label | Cholesterol Ester Storage Disease |
| Mesh Subclassof | D008064, D016464 |
| Doid Label | cholesterol ester storage disease |
| Doid Description | A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. |
| Disease Node Id | disease_node_8137 |
| Doid Id | DOID_14502 |
| Label | Cholesterol Ester Storage Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Acid Lipase Deficiency(ID:disease_node_20502) (Disease)