Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Ciliopathies
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Ciliopathies
Description
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. MeSH
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Subtype Terms (6)
Alstrom Syndrome
2 drugs (1 approved, 1 experimental)
Bardet-Biedl Syndrome
2 approved drugs
Ciliary Motility Disorders
6 drugs (3 approved, 3 experimental)
Polycystic Kidney Diseases
18 drugs (14 approved, 4 experimental)
von Hippel-Lindau Disease
20 drugs (14 approved, 6 experimental)
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UMLS Data
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