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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

GARD:12099

MESH:D015217

OMIM:278000

ORDO:75234

SNOMEDCT_US_2023_03_01:57218003

UMLS_CUI:C0008384

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

is_a lysosomal acid lipase deficiency

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