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Gaucher disease perinatal lethal

MONDO:0011945

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).

Also known as: Gaucher disease collodion type, Gaucher disease perinatal lethal, Gaucher disease, collodion type, Gaucher disease, perinatal lethal, Gaucher disease, perinatal-lethal form, Gaucher's disease perinatal lethal, fetal Gaucher disease, foetal Gaucher disease

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

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Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Eye disorder (102) Inborn errors of metabolism (45) Gaucher disease (44) Lysosomal storage disease (35) Human disease (14) Sphingolipidosis (6)
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  • Can we outsmart Gaucher's hidden toll on lungs, bones, and brain?

    Knowledge-focused Recruiting now

    This study follows 30 people with Gaucher disease who are receiving standard medical care to better understand how the condition affects the lungs, bones, and nervous system over time. Researchers will track changes in breathing, bone density, and neurological signs, along with b…

    Sponsor: Yale University • Aim: Knowledge-focused

    Last updated Aug 13, 2026 00:00 UTC

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