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Singleton-Merten syndrome 2

MONDO:0014575

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.

Also known as: DDX58 singleton-Merten dysplasia, singleton-Merten dysplasia caused by mutation in DDX58, singleton-Merten syndrome 2, singleton-Merten syndrome type 2, SGMRT2

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

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Rheumatic disorder (87) Connective tissue disorder (68) Bone disorder (51) Osteogenesis imperfecta (34) Syndromic disease (25) Autoinflammatory syndrome (21) Human disease (14)
Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 1 Completed 3
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  • New blood tests aim to unlock mysteries of rare inflammatory diseases

    Knowledge-focused Not yet recruiting

    This study aims to better understand rare autoinflammatory diseases by developing blood tests that measure inflammation markers. Researchers will analyze blood samples from 60 adults and children with these conditions. The goal is to identify specific inflammation pathways, which…

    Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused

    Last updated Jun 26, 2026 17:44 UTC

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