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Ciliopathies

Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.

Year introduced: 2017

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Subheadings:

Tree Number(s): C16.131.077.245, C16.320.184

MeSH Unique ID: D000072661

Entry Terms:

  • Ciliopathy

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