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
74 clinical trials for this condition and its sub-types.
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Hermansky-Pudlak syndrome 1
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Hermansky-Pudlak syndrome 4
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Hermansky-Pudlak syndrome 10
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Hermansky-Pudlak syndrome 11
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Hermansky-Pudlak syndrome 2
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Hermansky-Pudlak syndrome 3
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Hermansky-Pudlak syndrome 5
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Hermansky-Pudlak syndrome 6
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Hermansky-Pudlak syndrome 7
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Hermansky-Pudlak syndrome 8
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Hermansky-Pudlak syndrome 9
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Hermansky-Pudlak syndrome without pulmonary fibrosis
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Hermansky-Pudlak syndrome with pulmonary fibrosis
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Kotzot-Richter syndrome
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