Search Ontology:
Human Disease
cholesterol ester storage disease
- Term ID
- DOID:14502
- Synonyms
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- CESD
- partial cholesterol ester hydrolase deficiency
- partial LAL deficiency
- partial LIPA deficiency
- partial lysosomal acid lipase deficiency
- 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. (2)
- References
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- GARD:12099
- MESH:D015217
- MIM:278000
- ORDO:75234
- SNOMEDCT_US_2023_03_01:57218003
- UMLS_CUI:C0008384
- Ontology
- Human Disease ( DOID:14502 )
- is a type of
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Genes Involved
Zebrafish Models