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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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Part of

↑ 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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  • New study aims to unlock secrets of rare cholesterol diseases

    Knowledge-focused Recruiting now

    This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

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

    Last updated Aug 19, 2026 00:00 UTC

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