# Nasu-Hakola disease

> human disease

**Wikidata**: [Q3281284](https://www.wikidata.org/wiki/Q3281284)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy)  
**Source**: https://4ort.xyz/entity/nasu-hakola-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. UniProt
5. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000011600/Orphanet_2770)
7. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000095970/Orphanet_2770)
9. YSO-Wikidata mapping project
10. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)