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Paternal uniparental disomy of chromosome 14

MONDO:0011975

Also known as: UPD(14)pat, paternal uniparental disomy of chromosome 14, paternal uniparental disomy of chromosome type 14, KAGAMI-Ogata syndrome, paternal uniparental disomy 14, uniparental disomy, paternal, chromosome 14

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

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Broader categories

Disease (680) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (8) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (1) Autosomal anomaly (0) Chromosome 14 disorder (0) Disease by developmental or physiological process (0)
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  • 2000-Patient study aims to uncover hidden metabolic risks in rare genetic disorders

    Knowledge-focused Recruiting now

    This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

    Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

    Last updated Jun 27, 2026 09:05 UTC

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