Disease association ontology term - MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Term summary
- ID
- MONDO:0008083
- Name
- ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- Ontology or CV name
- Disease association
- Definition
- A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
