# Hermansky-Pudlak syndrome 6

> Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24

**Wikidata**: [Q26695318](https://www.wikidata.org/wiki/Q26695318)  
**Source**: https://4ort.xyz/entity/hermansky-pudlak-syndrome-6


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/602ae8f1-9e7f-4cc6-bf70-d572d98828c5--2020-11-25T17:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_602ae8f1-9e7f-4cc6-bf70-d572d98828c5-2020-11-25T170000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)