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Singleton-Merten syndrome 1

MONDO:0024535

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.

Also known as: IFIH1 singleton-Merten dysplasia, singleton-Merten dysplasia caused by mutation in IFIH1, SGMRT1, singleton-Merten syndrome 1

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

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Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Rheumatic disorder (80) Connective tissue disorder (67) Bone disorder (47) Osteogenesis imperfecta (33) Syndromic disease (24) Autoinflammatory syndrome (18) Human disease (14)
Trials to join now! 36 Not yet recruiting 9 Not yet finished but already full! 11 Completed 20 Terminated 1
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  • Scientists gather leftover surgical tissue to unlock secrets of bone disease

    Knowledge-focused Terminated

    This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

    Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:52 UTC

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