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Neutropenia, severe congenital, 8, autosomal dominant

MONDO:0032899

Also known as: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT, Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities, SCN8, Shwachman-Diamond Syndrome-Like

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Immune system disorder (148) Neutropenia (32) Human disease (14) Leukocyte disorder (6) Leukopenia (6) Severe congenital neutropenia (5) Constitutional neutropenia (2)
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  • New registry aims to unlock secrets of rare bone marrow disease

    Knowledge-focused Recruiting now

    This study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical records and biological samples from up to 5,000 participants to understand how the disease progresses and what treatments work best. The goal…

    Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:04 UTC

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