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Hermansky-Pudlak syndrome 8

MONDO:0013560

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.

Also known as: BLOC1S3 Hermansky-Pudlak syndrome, HPS8, Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome caused by mutation in BLOC1S3, Hermansky-Pudlak syndrome type 8

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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  • AI takes on blood clotting: can ChatGPT guide surgeons on bleeding?

    Knowledge-focused Terminated

    This study evaluates whether artificial intelligence models can accurately interpret ROTEM blood clotting tests and recommend treatments for coagulopathy. Researchers will compare AI decisions to those of a panel of clinical experts using data from adults undergoing elective card…

    Sponsor: Ondokuz Mayıs University • Aim: Knowledge-focused

    Last updated Jul 04, 2026 00:00 UTC

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