Disease association ontology term - MONDO:0009744 - neuronal ceroid lipofuscinosis 1
Term summary
- ID
- MONDO:0009744
- Name
- neuronal ceroid lipofuscinosis 1
- Ontology or CV name
- Disease association
- Definition
- A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
