# Hermansky-Pudlak syndrome

> rare disease

**Wikidata**: [Q1506216](https://www.wikidata.org/wiki/Q1506216)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hermansky–Pudlak_syndrome)  
**Source**: https://4ort.xyz/entity/hermansky-pudlak-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
5. RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
6. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
7. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000110756/MONDO_0019312)
9. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
10. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
11. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
12. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
13. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107521/MONDO_0019312)
14. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
15. UMLS 2023
16. [Source](https://browser.ihtsdotools.org/)
17. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)