Disease association ontology term - MONDO:0019245 - lysosomal lipid storage disorder
Term summary
- ID
- MONDO:0019245
- Name
- lysosomal lipid storage disorder
- Ontology or CV name
- Disease association
- Definition
- An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
