Cholesterol metabolism disease

MONDO:0045008

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

Also known as: cholesterol metabolic process disease, cholesterol metabolism disease, disorder of cholesterol metabolic process, disorder of cholesterol metabolism

13 clinical trials for this condition and its sub-types, 3 tagged with Cholesterol metabolism disease itself.

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Where it sits in the disease tree

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↑ Sterol metabolism disorder (60)

Sub-types of Cholesterol metabolism disease

Cholesterol biosynthetic process disease 2 trials · 6 incl. sub-types
3 sub-types
- Smith-Lemli-Opitz syndrome 6 trials
- Lathosterolosis 3 trials
- Desmosterolosis 2 trials
Cholesterol catabolic process disease 0 trials · 6 incl. sub-types
1 sub-type
- Cerebrotendinous xanthomatosis 6 trials

Including sub-types (13) Tagged with Cholesterol metabolism disease (3)

Completed 2 Terminated 1

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

Cholesterol metabolism disease

Where it sits in the disease tree

Scientists dive into rare cholesterol disorders to uncover clues