A 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. [ http://purl.obolibrary.org/obo/ECO_0007636 url:http://omim.org/entry/608233 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537709
  • MIM:608233
has obo namespace

disease_ontology

id

DOID:0060540

Term relations