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Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.

4 trials tagged with this condition →

Hermansky-Pudlak syndrome with pulmonary fibrosis 0 trials · 1 incl. sub-types Sub-types →
Hermansky-Pudlak syndrome 10 0 trials
Hermansky-Pudlak syndrome 11 0 trials
Hermansky-Pudlak syndrome 2 0 trials
Hermansky-Pudlak syndrome 7 0 trials
Hermansky-Pudlak syndrome 8 0 trials
Hermansky-Pudlak syndrome 9 0 trials
Hermansky-Pudlak syndrome without pulmonary fibrosis 0 trials Sub-types →
Kotzot-Richter syndrome 0 trials