Rare Disease Library

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"

6 matching diseasesClear search ×

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

ORPHA:664500

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

HPS10 · Hermansky-Pudlak syndrome type 10

ORPHA:664511

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome with neutropenia · Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency

ORPHA:183678

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

ORPHA:231531

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis

ORPHA:231512

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis

ORPHA:231500