Ciliopathy

congenital disorder of urinary system

congenital disorder of digestive system

ciliopathic human genetic disorder that produces many effects and affects many body systems

rare genetic disorder caused by mutations in the gene ALMS1

genetic disorder affecting the cerebellum

thumb|420x420px|Eukaryotic cilium 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 developmental and physiological processes.

bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts

a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.

ciliopathy with impaired function of the cilia lining the respiratory tract and fallopian tube

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations

orofaciodigital syndrome characterized_by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene

human disease

Human disease

syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation

human disease

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recessive form of polycystic kidney disease

autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease