Ciliopathy · Genetic disease resulting in abnormal formation or function of cilia · YYNN

Ciliopathy

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Genetic disease resulting in abnormal formation or function of cilia

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Subclasses
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Primary ciliary dyskinesia

Medical condition

Subject of
3

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scientific article published on 12 October 2020

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scholarly article

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice

scientific article

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Ciliopathies are a group of genetically diverse disorders caused by defects in the structure or function of the primary cilium, a highly specialized and evolutionarily conserved organelle found in nearly all eukaryotic cells. The primary cilium plays a central role in regulating signal transduction and making it essential for numerous...

Instance of

class of disease

Subclass of

Genetic disorder

monogenic disease

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