Hermansky-Pudlak syndrome
MONDO:0019312Hermansky-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.
Also known as: HPS, HPS (Hermansky Pudlak syndrome), Hepatopulmonary Syndrome, Hermansky Pudlak syndrome
8 clinical trials for this condition and its sub-types, 4 tagged with Hermansky-Pudlak syndrome itself.
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Sub-types of Hermansky-Pudlak syndrome
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Hermansky-Pudlak syndrome with pulmonary fibrosis 0 trials · 1 incl. sub-types
2 sub-types
- Hermansky-Pudlak syndrome 1 1 trial
- Hermansky-Pudlak syndrome 4 1 trial
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Hermansky-Pudlak syndrome 10 0 trials
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Hermansky-Pudlak syndrome 11 0 trials
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Hermansky-Pudlak syndrome 2 0 trials
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Hermansky-Pudlak syndrome 7 0 trials
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Hermansky-Pudlak syndrome 8 0 trials
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Hermansky-Pudlak syndrome 9 0 trials
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3 sub-types
- Hermansky-Pudlak syndrome 3 0 trials
- Hermansky-Pudlak syndrome 5 0 trials
- Hermansky-Pudlak syndrome 6 0 trials
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Kotzot-Richter syndrome 0 trials