# neuronal ceroid lipofuscinosis 2

> condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments

**Wikidata**: [Q32140590](https://www.wikidata.org/wiki/Q32140590)  
**Source**: https://4ort.xyz/entity/neuronal-ceroid-lipofuscinosis-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166340/MONDO_0008769)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166340/Orphanet_228349)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023