DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Diseases, Developmental [C05.116.099] Bone Diseases, Developmental Dwarfism [C05.116.099.343] Dwarfism Achondroplasia [C05.116.099.343.110] Achondroplasia Cockayne Syndrome [C05.116.099.343.250] Cockayne Syndrome Congenital Hypothyroidism [C05.116.099.343.347] Congenital Hypothyroidism Dwarfism, Pituitary [C05.116.099.343.445] Dwarfism, Pituitary Laron Syndrome [C05.116.099.343.679] Laron Syndrome Mulibrey Nanism [C05.116.099.343.796] Mulibrey Nanism Weill-Marchesani Syndrome [C05.116.099.343.957] Weill-Marchesani Syndrome DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurodegenerative Diseases [C10.574] Neurodegenerative Diseases Heredodegenerative Disorders, Nervous System [C10.574.500] Heredodegenerative Disorders, Nervous System Alexander Disease [C10.574.500.024] Alexander Disease Amyloid Neuropathies, Familial [C10.574.500.050] Amyloid Neuropathies, Familial Bulbo-Spinal Atrophy, X-Linked [C10.574.500.175] Bulbo-Spinal Atrophy, X-Linked Canavan Disease [C10.574.500.300] Canavan Disease Cockayne Syndrome [C10.574.500.362] Cockayne Syndrome Dystonia Musculorum Deformans [C10.574.500.393] Dystonia Musculorum Deformans Gerstmann-Straussler-Scheinker Disease [C10.574.500.425] Gerstmann-Straussler-Scheinker Disease Hepatolenticular Degeneration [C10.574.500.487] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C10.574.500.490] Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Autonomic Neuropathies [C10.574.500.493] Hereditary Sensory and Autonomic Neuropathies Hereditary Sensory and Motor Neuropathy [C10.574.500.495] Hereditary Sensory and Motor Neuropathy Huntington Disease [C10.574.500.497] Huntington Disease Lafora Disease [C10.574.500.529] Lafora Disease Myotonia Congenita [C10.574.500.545] Myotonia Congenita Myotonic Dystrophy [C10.574.500.547] Myotonic Dystrophy Neurofibromatoses [C10.574.500.549] Neurofibromatoses Neuronal Ceroid-Lipofuscinoses [C10.574.500.550] Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary [C10.574.500.662] Optic Atrophies, Hereditary Pantothenate Kinase-Associated Neurodegeneration [C10.574.500.700] Pantothenate Kinase-Associated Neurodegeneration Spinal Muscular Atrophies of Childhood [C10.574.500.812] Spinal Muscular Atrophies of Childhood Spinocerebellar Degenerations [C10.574.500.825] Spinocerebellar Degenerations Tourette Syndrome [C10.574.500.850] Tourette Syndrome Tuberous Sclerosis [C10.574.500.865] Tuberous Sclerosis Unverricht-Lundborg Syndrome [C10.574.500.875] Unverricht-Lundborg Syndrome 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 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 Dwarfism [C16.320.240] Dwarfism Achondroplasia [C16.320.240.500] Achondroplasia Cockayne Syndrome [C16.320.240.562] Cockayne Syndrome Congenital Hypothyroidism [C16.320.240.625] Congenital Hypothyroidism Laron Syndrome [C16.320.240.750] Laron Syndrome Mulibrey Nanism [C16.320.240.875] Mulibrey Nanism Silver-Russell Syndrome [C16.320.240.937] Silver-Russell 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 Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Alexander Disease [C16.320.400.024] Alexander Disease Amyloid Neuropathies, Familial [C16.320.400.050] Amyloid Neuropathies, Familial Bulbo-Spinal Atrophy, X-Linked [C16.320.400.100] Bulbo-Spinal Atrophy, X-Linked Canavan Disease [C16.320.400.150] Canavan Disease Cockayne Syndrome [C16.320.400.200] Cockayne Syndrome Dystonia Musculorum Deformans [C16.320.400.330] Dystonia Musculorum Deformans Gerstmann-Straussler-Scheinker Disease [C16.320.400.350] Gerstmann-Straussler-Scheinker Disease Hepatolenticular Degeneration [C16.320.400.361] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367] Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Motor Neuropathy [C16.320.400.375] Hereditary Sensory and Motor Neuropathy Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415] Hereditary Sensory and Autonomic Neuropathies Huntington Disease [C16.320.400.430] Huntington Disease Lafora Disease [C16.320.400.480] Lafora Disease Mental Retardation, X-Linked [C16.320.400.525] Mental Retardation, X-Linked Myotonia Congenita [C16.320.400.540] Myotonia Congenita Myotonic Dystrophy [C16.320.400.542] Myotonic Dystrophy Neuroacanthocytosis [C16.320.400.550] Neuroacanthocytosis Neurofibromatoses [C16.320.400.560] Neurofibromatoses Neuronal Ceroid-Lipofuscinoses [C16.320.400.600] Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary [C16.320.400.630] Optic Atrophies, Hereditary Pantothenate Kinase-Associated Neurodegeneration [C16.320.400.650] Pantothenate Kinase-Associated Neurodegeneration Spinal Muscular Atrophies of Childhood [C16.320.400.765] Spinal Muscular Atrophies of Childhood Spinocerebellar Degenerations [C16.320.400.780] Spinocerebellar Degenerations Tourette Syndrome [C16.320.400.820] Tourette Syndrome Tuberous Sclerosis [C16.320.400.880] Tuberous Sclerosis Unverricht-Lundborg Syndrome [C16.320.400.940] Unverricht-Lundborg Syndrome DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases DNA Repair-Deficiency Disorders [C18.452.284] DNA Repair-Deficiency Disorders Ataxia Telangiectasia [C18.452.284.060] Ataxia Telangiectasia Bloom Syndrome [C18.452.284.100] Bloom Syndrome Cockayne Syndrome [C18.452.284.250] Cockayne Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255] Colorectal Neoplasms, Hereditary Nonpolyposis Fanconi Anemia [C18.452.284.280] Fanconi Anemia Li-Fraumeni Syndrome [C18.452.284.520] Li-Fraumeni Syndrome Nijmegen Breakage Syndrome [C18.452.284.600] Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome [C18.452.284.760] Rothmund-Thomson Syndrome Severe Combined Immunodeficiency [C18.452.284.800] Severe Combined Immunodeficiency Werner Syndrome [C18.452.284.960] Werner Syndrome Xeroderma Pigmentosum [C18.452.284.975] Xeroderma Pigmentosum

Cockayne Syndrome - Conceito preferido

Identificador do conceito	M0004689
Nota de escopo	A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
Termo preferido	Cockayne Syndrome
Termo(s) alternativo(s)	Dwarfism-Retinal Atrophy-Deafness Syndrome Progeria Like Syndrome Progeria-Like Syndrome Progeria-Like Syndromes Progeroid Nanism Syndrome, Cockayne Syndrome, Progeria-Like

Cockayne Syndrome, Type II - Mais específico

Identificador do conceito	M0337666
Nota de escopo	Caused by mutations of gene ERCC6.
Termo preferido	Cockayne Syndrome, Type II
Termo(s) alternativo(s)	Cockayne Syndrome, Group B Cockayne Syndrome, Type B Group B Cockayne Syndrome Type B Cockayne Syndrome Type II Cockayne Syndrome

Cockayne Syndrome, Type III - Mais específico

Identificador do conceito	M0337667
Nota de escopo	Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.
Termo preferido	Cockayne Syndrome, Type III
Termo(s) alternativo(s)	Cockayne Syndrome Type 3 Cockayne Syndrome Type C Cockayne Syndrome, Group C Cockayne Syndrome, Type C Group C Cockayne Syndrome Type C Cockayne Syndrome Type III Cockayne Syndrome

Cockayne Syndrome, Type I - Mais específico

Identificador do conceito	M0337665
Nota de escopo	Caused by mutations of gene CKN1.
Termo preferido	Cockayne Syndrome, Type I
Termo(s) alternativo(s)	Cockayne Syndrome, Group A Cockayne Syndrome, Type A Group A Cockayne Syndrome Type A Cockayne Syndrome Type I Cockayne Syndrome