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Meckel syndrome, type 1

MONDO:0009571

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.

Also known as: MKS1, MKS1 Meckel syndrome, Meckel syndrome caused by mutation in MKS1, Meckel syndrome, type 1, Meckel-Gruber syndrome, type 1, Dysencephalia Splanchnocystica, Dysencephalia splachnocystica, Gruber syndrome

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

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Syndromic disease (25) Human disease (14) Skeletal system disorder (4) Syndactyly (3) Ciliopathy (2) Disease by molecular mechanism (2)
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  • New registry aims to unlock secrets of rare Kidney-Liver diseases

    Knowledge-focused Recruiting now

    This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

    Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

    Last updated Jun 27, 2026 14:00 UTC

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