# Hermansky-Pudlak syndrome 4

> Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1

**Wikidata**: [Q26695316](https://www.wikidata.org/wiki/Q26695316)  
**Source**: https://4ort.xyz/entity/hermansky-pudlak-syndrome-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3649fe18-730d-4d46-ad60-b70d421abc02--2020-05-27T16:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3649fe18-730d-4d46-ad60-b70d421abc02-2020-05-27T160000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)