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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.

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Sub-types

Smith-Lemli-Opitz syndrome (6) Lathosterolosis (3) Desmosterolosis (2)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Developmental defect during embryogenesis (8) Cholesterol metabolism disease (3) Disease of genetic or genomic mechanism (2) Steroid metabolism disease (1)
Trials to join now! 1 Not yet finished but already full! 2 Completed 2 Terminated 1
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  • Scientists dive into rare cholesterol disorders to uncover clues

    Knowledge-focused Terminated

    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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