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Cholesterol biosynthetic process disease

MONDO:0045017

A disease that has its basis in the disruption of cholesterol biosynthetic process.

Also known as: cholesterol synthesis disease, disorder of cholesterol biosynthetic process, disorder of cholesterol synthesis

6 clinical trials for this condition and its sub-types, 2 tagged with Cholesterol biosynthetic process disease itself.

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Where it sits in the disease tree

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↑ Sterol biosynthesis disorder (45) ↑ Cholesterol metabolism disease (13)

Sub-types of Cholesterol biosynthetic process disease

  • Smith-Lemli-Opitz syndrome 6 trials
  • Lathosterolosis 3 trials
  • Desmosterolosis 2 trials
Including sub-types (6) Tagged with Cholesterol biosynthetic process disease (2)
Trials to join now! 1 Terminated 1
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  • Scientists dive into rare cholesterol disorders to uncover clues

    Knowledge-focused Stopped early

    This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

    Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

    Last updated Aug 14, 2026 00:00 UTC

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