Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Hermansky-Pudlak syndrome 3
MONDO:0013555
Hermansky-Pudlak syndrome 6
MONDO:0013558