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| General Information | |||
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| Term | cholesterol ester storage disease | ID (Ontology) | DOID:14502 (Human 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. | ||
| Also Known As | "CESD" ; "partial cholesterol ester hydrolase deficiency" ; "partial LAL deficiency" (for all, see Synonyms field below) | ||
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| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ lipid storage disease________| lysosomal acid lipase deficiency |__cholesterol ester storage disease 21 rec. |
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Relationships
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| Is a | lysosomal acid lipase deficiency | ||
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:12099 MESH:D015217 MIM:278000 ORDO:75234 SNOMEDCT_US_2023_03_01:57218003 UMLS_CUI:C0008384 |
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