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DO Term : cholesterol ester storage disease [DOID:14502] Disease Ontology

Namespace

disease_ontology

Obsolete

false

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.

synonyms:
partial lysosomal acid lipase deficiency,
partial cholesterol ester hydrolase deficiency,
partial LIPA deficiency,
partial LAL deficiency,
ORDO:75234,
GARD:12099,
MESH:D015217,
CESD,
278000,
UMLS_CUI:C0008384,
SNOMEDCT_US_2023_03_01:57218003,
OMIM:278000

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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