# Hermansky-Pudlak syndrome 2

> Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1

**Wikidata**: [Q26695314](https://www.wikidata.org/wiki/Q26695314)  
**Source**: https://4ort.xyz/entity/hermansky-pudlak-syndrome-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/00ce813c-9493-48f9-9351-b70defb71d75--2020-02-26T17:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00ce813c-9493-48f9-9351-b70defb71d75-2020-02-26T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000132842/MONDO_0011997)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)