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Hermansky-Pudlak syndrome 3

MONDO:0013555

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.

Also known as: HPS3 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome caused by mutation in HPS3, Hermansky-Pudlak syndrome type 3, HPS3

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Hematologic disorder (170) Skin disorder (132) Blood coagulation disease (53) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Skin pigmentation disorder (11)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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  • Scientists dig into genetic roots of rare bleeding disorders

    Knowledge-focused Recruiting now

    This study looks at how blood cells interact and what goes wrong in inherited bleeding disorders like Glanzmann thrombasthenia. Researchers will analyze blood samples from up to 60 healthy volunteers and patients to find genetic defects. The goal is to better understand these con…

    Sponsor: Rockefeller University • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:55 UTC

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