Disease association ontology term - MONDO:0015611 - neutral lipid storage disease
Term summary
- ID
- MONDO:0015611
- Name
- neutral lipid storage disease
- Ontology or CV name
- Disease association
- Definition
- Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.
