Disease association ontology term - MONDO:0001982 - Niemann-Pick disease
Term summary
- ID
- MONDO:0001982
- Name
- Niemann-Pick disease
- Ontology or CV name
- Disease association
- Definition
- A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.