Disease association ontology term - MONDO:0008767 - neuronal ceroid lipofuscinosis 3
Term summary
- ID
- MONDO:0008767
- Name
- neuronal ceroid lipofuscinosis 3
- Ontology or CV name
- Disease association
- Definition
- A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.