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Cholesterol catabolic process disease

MONDO:0045016

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

Also known as: cholesterol catabolism disease, disorder of cholesterol catabolic process, disorder of cholesterol catabolism

6 clinical trials for this condition and its sub-types.

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Sub-types

Cerebrotendinous xanthomatosis (6)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Cholesterol metabolism disease (3) Disease of genetic or genomic mechanism (2) Steroid metabolism disease (1) Disease by developmental or physiological process (0)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 2 Completed 1 Terminated 1
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  • Could a single DNA test solve the mystery of rare brain diseases in kids?

    Knowledge-focused Completed

    This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

    Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:56 UTC

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