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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Hermansky-Pudlak syndrome due to AP3B1 deficiency
Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
HPS10 · Hermansky-Pudlak syndrome type 10
Hermansky-Pudlak syndrome
HPS
Hermansky-Pudlak syndrome type 8
HPS8
Hermansky-Pudlak syndrome type 9
HPS9