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CSF1R-related disorder

MONDO:0100632

Any disease in which the cause of the disease is a variation in the CSF1R gene.

Also known as: CSF1R-RD, colony stimulating factor-1 receptor-related disorder

6 clinical trials for this condition and its sub-types, 0 tagged with CSF1R-related disorder itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18187)

Sub-types of CSF1R-related disorder

Including sub-types (6) Tagged with CSF1R-related disorder (0)

Trials to join now! 3 Not yet finished but already full! 2 Completed 1

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