# Hermansky-Pudlak syndrome 3

> Hermasky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24

**Wikidata**: [Q26695315](https://www.wikidata.org/wiki/Q26695315)  
**Source**: https://4ort.xyz/entity/hermansky-pudlak-syndrome-3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/80370671-df62-4330-89f4-216d350e5958--2020-02-26T17:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80370671-df62-4330-89f4-216d350e5958-2020-02-26T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163755/MONDO_0013555)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)