| Metadata | |
|---|---|
| ID | DOID:14502 |
| Name | cholesterol ester storage disease |
| Definition | 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. https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, https://www.ncbi.nlm.nih.gov/books/NBK395569/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:57218003 |
| Subsets |
DO_rare_slim |
| Synonyms |
CESD [EXACT] partial cholesterol ester hydrolase deficiency [EXACT] partial LAL deficiency [EXACT] partial LIPA deficiency [EXACT] partial lysosomal acid lipase deficiency [EXACT] |
| Parent Relationships |