Disease association ontology term - MONDO:0019149 - cholesteryl ester storage disease
Term summary
- ID
- MONDO:0019149
- Name
- cholesteryl ester storage disease
- Ontology or CV name
- Disease association
- Definition
- A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
