DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Alstrom Syndrome [C16.131.077.245.063] Alstrom Syndrome Bardet-Biedl Syndrome [C16.131.077.245.125] Bardet-Biedl Syndrome Caroli Disease [C16.131.077.245.250] Caroli Disease Ciliary Motility Disorders [C16.131.077.245.500] Ciliary Motility Disorders von Hippel-Lindau Disease [C16.131.077.245.750] von Hippel-Lindau Disease Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital [C16.320.033] Adrenal Hyperplasia, Congenital Alagille Syndrome [C16.320.051] Alagille Syndrome alpha 1-Antitrypsin Deficiency [C16.320.060] alpha 1-Antitrypsin Deficiency Anemia, Hemolytic, Congenital [C16.320.070] Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital [C16.320.077] Anemia, Hypoplastic, Congenital Ataxia Telangiectasia [C16.320.080] Ataxia Telangiectasia Autoimmune Lymphoproliferative Syndrome [C16.320.089] Autoimmune Lymphoproliferative Syndrome Blood Coagulation Disorders, Inherited [C16.320.099] Blood Coagulation Disorders, Inherited Brugada Syndrome [C16.320.100] Brugada Syndrome CADASIL [C16.320.129] CADASIL Camurati-Engelmann Syndrome [C16.320.144] Camurati-Engelmann Syndrome Cardiomyopathy, Hypertrophic, Familial [C16.320.160] Cardiomyopathy, Hypertrophic, Familial CHARGE Syndrome [C16.320.165] CHARGE Syndrome Cherubism [C16.320.170] Cherubism Chromosome Disorders [C16.320.180] Chromosome Disorders Ciliopathies [C16.320.184] Ciliopathies Alstrom Syndrome [C16.320.184.063] Alstrom Syndrome Bardet-Biedl Syndrome [C16.320.184.125] Bardet-Biedl Syndrome Caroli Disease [C16.320.184.250] Caroli Disease Ciliary Motility Disorders [C16.320.184.500] Ciliary Motility Disorders Polycystic Kidney Diseases [C16.320.184.625] Polycystic Kidney Diseases von Hippel-Lindau Disease [C16.320.184.750] von Hippel-Lindau Disease Costello Syndrome [C16.320.188] Costello Syndrome Cystic Fibrosis [C16.320.190] Cystic Fibrosis Donohue Syndrome [C16.320.215] Donohue Syndrome Dwarfism [C16.320.240] Dwarfism Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Familial Multiple Lipomatosis [C16.320.298] Familial Multiple Lipomatosis Frasier Syndrome [C16.320.306] Frasier Syndrome GATA2 Deficiency [C16.320.314] GATA2 Deficiency Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Genetic Diseases, Y-Linked [C16.320.338] Genetic Diseases, Y-Linked Hajdu-Cheney Syndrome [C16.320.355] Hajdu-Cheney Syndrome Hemoglobinopathies [C16.320.365] Hemoglobinopathies Hereditary Autoinflammatory Diseases [C16.320.382] Hereditary Autoinflammatory Diseases Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hyper-IgM Immunodeficiency Syndrome [C16.320.413] Hyper-IgM Immunodeficiency Syndrome Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427] Hyperthyroxinemia, Familial Dysalbuminemic Imprinting Disorders [C16.320.447] Imprinting Disorders Kallmann Syndrome [C16.320.467] Kallmann Syndrome Kartagener Syndrome [C16.320.480] Kartagener Syndrome Laminopathies [C16.320.488] Laminopathies Lennox Gastaut Syndrome [C16.320.495] Lennox Gastaut Syndrome Loeys-Dietz Syndrome [C16.320.510] Loeys-Dietz Syndrome Marfan Syndrome [C16.320.540] Marfan Syndrome Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Muscular Dystrophies [C16.320.577] Muscular Dystrophies Myasthenic Syndromes, Congenital [C16.320.590] Myasthenic Syndromes, Congenital Nail-Patella Syndrome [C16.320.600] Nail-Patella Syndrome Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Oculocerebrorenal Syndrome [C16.320.709] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.320.714] Orofaciodigital Syndromes Osteoarthropathy, Primary Hypertrophic [C16.320.718] Osteoarthropathy, Primary Hypertrophic Osteochondrodysplasias [C16.320.728] Osteochondrodysplasias Osteogenesis Imperfecta [C16.320.737] Osteogenesis Imperfecta Pain Insensitivity, Congenital [C16.320.775] Pain Insensitivity, Congenital Pelger-Huet Anomaly [C16.320.784] Pelger-Huet Anomaly Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Pycnodysostosis [C16.320.812] Pycnodysostosis Renal Tubular Transport, Inborn Errors [C16.320.831] Renal Tubular Transport, Inborn Errors Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Werner Syndrome [C16.320.925] Werner Syndrome Yellow Nail Syndrome [C16.320.962] Yellow Nail Syndrome

Ciliopathies - Preferred

Concept UI	M000617726
Scope note	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.
Preferred term	Ciliopathies
Entry term(s)	Ciliopathy