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Meckel syndrome, type 2

MONDO:0011296

Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.

Also known as: MKS2, Meckel syndrome caused by mutation in TMEM216, Meckel syndrome, type 2, Meckel-Gruber syndrome, type 2, TMEM216 Meckel syndrome, Meckel syndrome 2, Meckel syndrome type 2

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

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Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Syndromic disease (24) Human disease (14) Skeletal system disorder (4) Syndactyly (3) Ciliopathy (2) Disease by molecular mechanism (2)
Trials to join now! 18 Not yet recruiting 6 Not yet finished but already full! 4 Completed 8 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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