ciliopathy

MeSH: D000072661ORPHA: 363250

Overview

genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

D000072661

Orphanet Code

ORPHA:363250
ciliopathy
MeSHD000072661
OrphanetORPHA:363250
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO