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| Medical Subject Headings | |
MeSH Tree Structures - 2009
C16 - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Drug-Induced [C16.131.042]
- Abnormalities, Multiple [C16.131.077]
- Alagille Syndrome [C16.131.077.065]
- Angelman Syndrome [C16.131.077.095]
- Bardet-Biedl Syndrome [C16.131.077.112]
- Basal Cell Nevus Syndrome [C16.131.077.130]
- Beckwith-Wiedemann Syndrome [C16.131.077.133]
- Bloom Syndrome [C16.131.077.137]
- Branchio-Oto-Renal Syndrome [C16.131.077.208]
- Cockayne Syndrome [C16.131.077.250]
- Cri-du-Chat Syndrome [C16.131.077.262]
- De Lange Syndrome [C16.131.077.272]
- Deaf-Blind Disorders [C16.131.077.299]
- Down Syndrome [C16.131.077.327]
- Ectodermal Dysplasia [C16.131.077.350]
- Ectodermal Dysplasia 1, Anhidrotic [C16.131.077.350.198]
- Ectodermal Dysplasia 3, Anhidrotic [C16.131.077.350.298]
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.131.077.350.348]
- Ellis-Van Creveld Syndrome [C16.131.077.350.398]
- Focal Dermal Hypoplasia [C16.131.077.350.424]
- Neurocutaneous Syndromes [C16.131.077.350.712]
- Gardner Syndrome [C16.131.077.393]
- Holoprosencephaly [C16.131.077.410]
- Incontinentia Pigmenti [C16.131.077.445]
- Laurence-Moon Syndrome [C16.131.077.509]
- LEOPARD Syndrome [C16.131.077.525]
- Marfan Syndrome [C16.131.077.550]
- Mobius Syndrome [C16.131.077.578]
- Nail-Patella Syndrome [C16.131.077.606]
- Nevus Sebaceous of Jadassohn [C16.131.077.633]
- Oculocerebrorenal Syndrome [C16.131.077.661]
- Orofaciodigital Syndromes [C16.131.077.677]
- Pallister-Hall Syndrome [C16.131.077.690]
- POEMS Syndrome [C16.131.077.703]
- Prader-Willi Syndrome [C16.131.077.730]
- Proteus Syndrome [C16.131.077.740]
- Prune Belly Syndrome [C16.131.077.745]
- Rubella Syndrome, Congenital [C16.131.077.790]
- Rubinstein-Taybi Syndrome [C16.131.077.804]
- Short Rib-Polydactyly Syndrome [C16.131.077.850]
- Smith-Lemli-Opitz Syndrome [C16.131.077.860]
- Trichothiodystrophy Syndromes [C16.131.077.899]
- Waardenburg's Syndrome [C16.131.077.938]
- Wolf-Hirschhorn Syndrome [C16.131.077.944]
- Wolfram Syndrome [C16.131.077.951]
- Zellweger Syndrome [C16.131.077.970]
- Abnormalities, Radiation-Induced [C16.131.080]
- Cardiovascular Abnormalities [C16.131.240]
- Heart Defects, Congenital [C16.131.240.400]
- Alagille Syndrome [C16.131.240.400.044]
- Aortic Coarctation [C16.131.240.400.090]
- Arrhythmogenic Right Ventricular Dysplasia [C16.131.240.400.145]
- Cor Triatriatum [C16.131.240.400.200]
- Coronary Vessel Anomalies [C16.131.240.400.210]
- Crisscross Heart [C16.131.240.400.220]
- Dextrocardia [C16.131.240.400.280]
- Ductus Arteriosus, Patent [C16.131.240.400.340]
- Ebstein Anomaly [C16.131.240.400.395]
- Ectopia Cordis [C16.131.240.400.422]
- Eisenmenger Complex [C16.131.240.400.450]
- Heart Septal Defects [C16.131.240.400.560]
- Hypoplastic Left Heart Syndrome [C16.131.240.400.625]
- LEOPARD Syndrome [C16.131.240.400.685]
- Levocardia [C16.131.240.400.701]
- Long QT Syndrome [C16.131.240.400.715]
- Marfan Syndrome [C16.131.240.400.720]
- Tetralogy of Fallot [C16.131.240.400.849]
- Transposition of Great Vessels [C16.131.240.400.915]
- Tricuspid Atresia [C16.131.240.400.920]
- Trilogy of Fallot [C16.131.240.400.960]
- Wolff-Parkinson-White Syndrome [C16.131.240.400.980]
- Vascular Malformations [C16.131.240.850]
- Arterio-Arterial Fistula [C16.131.240.850.500]
- Arteriovenous Malformations [C16.131.240.850.750]
- Central Nervous System Vascular Malformations [C16.131.240.850.875]
- Pulmonary Atresia [C16.131.240.850.906]
- Scimitar Syndrome [C16.131.240.850.937]
- Telangiectasia, Hereditary Hemorrhagic [C16.131.240.850.968]
- Heart Defects, Congenital [C16.131.240.400]
- Chromosome Disorders [C16.131.260]
- Angelman Syndrome [C16.131.260.040]
- Beckwith-Wiedemann Syndrome [C16.131.260.080]
- Branchio-Oto-Renal Syndrome [C16.131.260.090]
- Cri-du-Chat Syndrome [C16.131.260.190]
- De Lange Syndrome [C16.131.260.210]
- Down Syndrome [C16.131.260.260]
- Holoprosencephaly [C16.131.260.380]
- Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440]
- Prader-Willi Syndrome [C16.131.260.700]
- Rubinstein-Taybi Syndrome [C16.131.260.790]
- Sex Chromosome Disorders [C16.131.260.800]
- WAGR Syndrome [C16.131.260.940]
- Williams Syndrome [C16.131.260.970]
- Wolf-Hirschhorn Syndrome [C16.131.260.985]
- DiGeorge Syndrome [C16.131.300]
- Digestive System Abnormalities [C16.131.314]
- Eye Abnormalities [C16.131.384]
- Aniridia [C16.131.384.079]
- Anophthalmos [C16.131.384.159]
- Blepharophimosis [C16.131.384.190]
- Coloboma [C16.131.384.282]
- Ectopia Lentis [C16.131.384.405]
- Hydrophthalmos [C16.131.384.480]
- Microphthalmos [C16.131.384.666]
- Persistent Hyperplastic Primary Vitreous [C16.131.384.725]
- Retinal Dysplasia [C16.131.384.784]
- Lymphatic Abnormalities [C16.131.482]
- Monsters [C16.131.581]
- Musculoskeletal Abnormalities [C16.131.621]
- Arthrogryposis [C16.131.621.077]
- Campomelic Dysplasia [C16.131.621.142]
- Craniofacial Abnormalities [C16.131.621.207]
- Cleidocranial Dysplasia [C16.131.621.207.207]
- Craniofacial Dysostosis [C16.131.621.207.231]
- Craniosynostoses [C16.131.621.207.240]
- Holoprosencephaly [C16.131.621.207.410]
- LEOPARD Syndrome [C16.131.621.207.525]
- Maxillofacial Abnormalities [C16.131.621.207.540]
- Microcephaly [C16.131.621.207.620]
- Noonan Syndrome [C16.131.621.207.690]
- Orofaciodigital Syndromes [C16.131.621.207.700]
- Plagiocephaly, Nonsynostotic [C16.131.621.207.715]
- Platybasia [C16.131.621.207.720]
- Rubinstein-Taybi Syndrome [C16.131.621.207.850]
- Funnel Chest [C16.131.621.386]
- Gastroschisis [C16.131.621.417]
- Hajdu-Cheney Syndrome [C16.131.621.445]
- Hip Dislocation, Congenital [C16.131.621.449]
- Klippel-Feil Syndrome [C16.131.621.551]
- Laryngomalacia [C16.131.621.568]
- Limb Deformities, Congenital [C16.131.621.585]
- Arachnodactyly [C16.131.621.585.174]
- Ectromelia [C16.131.621.585.350]
- Foot Deformities, Congenital [C16.131.621.585.380]
- Hand Deformities, Congenital [C16.131.621.585.425]
- Lower Extremity Deformities, Congenital [C16.131.621.585.512]
- Polydactyly [C16.131.621.585.600]
- Proteus Syndrome [C16.131.621.585.620]
- Syndactyly [C16.131.621.585.800]
- Thanatophoric Dysplasia [C16.131.621.585.984]
- Upper Extremity Deformities, Congenital [C16.131.621.585.988]
- Synostosis [C16.131.621.906]
- Tracheobronchomalacia [C16.131.621.953]
- Nervous System Malformations [C16.131.666]
- Acrocallosal Syndrome [C16.131.666.070]
- Central Nervous System Cysts [C16.131.666.142]
- Central Nervous System Vascular Malformations [C16.131.666.190]
- Dandy-Walker Syndrome [C16.131.666.205]
- Hereditary Motor and Sensory Neuropathies [C16.131.666.300]
- Hereditary Sensory and Autonomic Neuropathies [C16.131.666.310]
- Holoprosencephaly [C16.131.666.410]
- Hydranencephaly [C16.131.666.450]
- Malformations of Cortical Development [C16.131.666.507]
- Neural Tube Defects [C16.131.666.680]
- Septo-Optic Dysplasia [C16.131.666.845]
- Respiratory System Abnormalities [C16.131.740]
- Bronchogenic Cyst [C16.131.740.195]
- Bronchopulmonary Sequestration [C16.131.740.214]
- Choanal Atresia [C16.131.740.271]
- Cystic Adenomatoid Malformation of Lung, Congenital [C16.131.740.290]
- Kartagener Syndrome [C16.131.740.501]
- Laryngostenosis [C16.131.740.658]
- Scimitar Syndrome [C16.131.740.815]
- Tracheobronchomegaly [C16.131.740.830]
- Situs Inversus [C16.131.810]
- Skin Abnormalities [C16.131.831]
- Acrodermatitis [C16.131.831.066]
- Dyskeratosis Congenita [C16.131.831.150]
- Ectodermal Dysplasia [C16.131.831.350]
- Ectodermal Dysplasia 1, Anhidrotic [C16.131.831.350.198]
- Ectodermal Dysplasia 3, Anhidrotic [C16.131.831.350.298]
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.131.831.350.348]
- Ellis-Van Creveld Syndrome [C16.131.831.350.398]
- Focal Dermal Hypoplasia [C16.131.831.350.424]
- Neurocutaneous Syndromes [C16.131.831.350.712]
- Pachyonychia Congenita [C16.131.831.350.856]
- Ehlers-Danlos Syndrome [C16.131.831.428]
- Epidermolysis Bullosa [C16.131.831.493]
- Ichthyosis [C16.131.831.512]
- Incontinentia Pigmenti [C16.131.831.580]
- Port-Wine Stain [C16.131.831.675]
- Pseudoxanthoma Elasticum [C16.131.831.766]
- Rothmund-Thomson Syndrome [C16.131.831.775]
- Sclerema Neonatorum [C16.131.831.812]
- Trichothiodystrophy Syndromes [C16.131.831.874]
- Xeroderma Pigmentosum [C16.131.831.936]
- Stomatognathic System Abnormalities [C16.131.850]
- Maxillofacial Abnormalities [C16.131.850.500]
- Mouth Abnormalities [C16.131.850.525]
- Tooth Abnormalities [C16.131.850.800]
- Anodontia [C16.131.850.800.100]
- Dens in Dente [C16.131.850.800.250]
- Dental Enamel Hypoplasia [C16.131.850.800.255]
- Dentin Dysplasia [C16.131.850.800.260]
- Dentinogenesis Imperfecta [C16.131.850.800.270]
- Fused Teeth [C16.131.850.800.370]
- Odontodysplasia [C16.131.850.800.600]
- Tooth, Supernumerary [C16.131.850.800.850]
- Thyroid Dysgenesis [C16.131.894]
- Urogenital Abnormalities [C16.131.939]
- Bladder Exstrophy [C16.131.939.132]
- Cryptorchidism [C16.131.939.258]
- Epispadias [C16.131.939.374]
- Frasier Syndrome [C16.131.939.445]
- Hypospadias [C16.131.939.516]
- Multicystic Dysplastic Kidney [C16.131.939.629]
- Nephritis, Hereditary [C16.131.939.742]
- Sex Differentiation Disorders [C16.131.939.842]
- WAGR Syndrome [C16.131.939.921]
- Fetal Diseases [C16.300]
- Genetic Diseases, Inborn [C16.320]
- Adrenal Hyperplasia, Congenital [C16.320.033]
- Alagille Syndrome [C16.320.051]
- Anemia, Hemolytic, Congenital [C16.320.070]
- Anemia, Dyserythropoietic, Congenital [C16.320.070.095]
- Anemia, Hemolytic, Congenital Nonspherocytic [C16.320.070.100]
- Anemia, Sickle Cell [C16.320.070.150]
- Elliptocytosis, Hereditary [C16.320.070.365]
- Glucosephosphate Dehydrogenase Deficiency [C16.320.070.480]
- Hemoglobin C Disease [C16.320.070.490]
- Spherocytosis, Hereditary [C16.320.070.785]
- Thalassemia [C16.320.070.875]
- Anemia, Hypoplastic, Congenital [C16.320.077]
- Angioedema, Hereditary [C16.320.078]
- Ataxia Telangiectasia [C16.320.080]
- Blood Coagulation Disorders, Inherited [C16.320.099]
- Activated Protein C Resistance [C16.320.099.037]
- Afibrinogenemia [C16.320.099.056]
- Antithrombin III Deficiency [C16.320.099.075]
- Bernard-Soulier Syndrome [C16.320.099.080]
- Factor V Deficiency [C16.320.099.300]
- Factor VII Deficiency [C16.320.099.310]
- Factor X Deficiency [C16.320.099.320]
- Factor XI Deficiency [C16.320.099.325]
- Factor XII Deficiency [C16.320.099.330]
- Factor XIII Deficiency [C16.320.099.335]
- Gray Platelet Syndrome [C16.320.099.417]
- Hemophilia A [C16.320.099.500]
- Hemophilia B [C16.320.099.510]
- Hermanski-Pudlak Syndrome [C16.320.099.515]
- Hypoprothrombinemias [C16.320.099.550]
- Protein C Deficiency [C16.320.099.690]
- Thrombasthenia [C16.320.099.820]
- von Willebrand Disease [C16.320.099.900]
- Wiskott-Aldrich Syndrome [C16.320.099.970]
- Brugada Syndrome [C16.320.100]
- CADASIL [C16.320.129]
- Camurati-Engelmann Syndrome [C16.320.144]
- Cardiomyopathy, Hypertrophic, Familial [C16.320.160]
- Cherubism [C16.320.170]
- Chromosome Disorders [C16.320.180]
- Angelman Syndrome [C16.320.180.040]
- Beckwith-Wiedemann Syndrome [C16.320.180.080]
- Branchio-Oto-Renal Syndrome [C16.320.180.090]
- Cri-du-Chat Syndrome [C16.320.180.190]
- De Lange Syndrome [C16.320.180.210]
- Down Syndrome [C16.320.180.260]
- Holoprosencephaly [C16.320.180.380]
- Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440]
- Prader-Willi Syndrome [C16.320.180.700]
- Rubinstein-Taybi Syndrome [C16.320.180.790]
- Sex Chromosome Disorders [C16.320.180.800]
- WAGR Syndrome [C16.320.180.940]
- Williams Syndrome [C16.320.180.970]
- Wolf-Hirschhorn Syndrome [C16.320.180.985]
- Cystic Fibrosis [C16.320.190]
- Dwarfism [C16.320.240]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Aniridia [C16.320.290.078]
- Choroideremia [C16.320.290.142]
- Corneal Dystrophies, Hereditary [C16.320.290.162]
- Duane Retraction Syndrome [C16.320.290.235]
- Gyrate Atrophy [C16.320.290.468]
- Optic Atrophies, Hereditary [C16.320.290.564]
- Retinal Dysplasia [C16.320.290.660]
- Retinitis Pigmentosa [C16.320.290.684]
- Familial Mediterranean Fever [C16.320.306]
- Genetic Diseases, X-Linked [C16.320.322]
- Androgen-Insensitivity Syndrome [C16.320.322.061]
- Bulbo-Spinal Atrophy, X-Linked [C16.320.322.076]
- Choroideremia [C16.320.322.092]
- Dyskeratosis Congenita [C16.320.322.108]
- Ectodermal Dysplasia 1, Anhidrotic [C16.320.322.116]
- Fabry Disease [C16.320.322.124]
- Focal Dermal Hypoplasia [C16.320.322.186]
- Glycogen Storage Disease Type IIb [C16.320.322.201]
- Glycogen Storage Disease Type VIII [C16.320.322.217]
- Granulomatous Disease, Chronic [C16.320.322.233]
- Hemophilia B [C16.320.322.235]
- Hyper-IgM Immunodeficiency Syndrome, Type 1 [C16.320.322.237]
- Hypophosphatemic Rickets, X-Linked Dominant [C16.320.322.239]
- Ichthyosis, X-Linked [C16.320.322.241]
- Mental Retardation, X-Linked [C16.320.322.500]
- Adrenoleukodystrophy [C16.320.322.500.124]
- Coffin-Lowry Syndrome [C16.320.322.500.249]
- Fragile X Syndrome [C16.320.322.500.500]
- Lesch-Nyhan Syndrome [C16.320.322.500.625]
- Menkes Kinky Hair Syndrome [C16.320.322.500.687]
- Mucopolysaccharidosis II [C16.320.322.500.750]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.322.500.875]
- Rett Syndrome [C16.320.322.500.937]
- Muscular Dystrophy, Duchenne [C16.320.322.562]
- Muscular Dystrophy, Emery-Dreifuss [C16.320.322.625]
- Oculocerebrorenal Syndrome [C16.320.322.750]
- Pelizaeus-Merzbacher Disease [C16.320.322.906]
- Wiskott-Aldrich Syndrome [C16.320.322.937]
- X-Linked Combined Immunodeficiency Diseases [C16.320.322.968]
- Genetic Diseases, Y-Linked [C16.320.338]
- Hajdu-Cheney Syndrome [C16.320.355]
- Hemoglobinopathies [C16.320.365]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Alexander Disease [C16.320.400.024]
- Amyloid Neuropathies, Familial [C16.320.400.050]
- Canavan Disease [C16.320.400.150]
- Cockayne Syndrome [C16.320.400.200]
- Dystonia Musculorum Deformans [C16.320.400.330]
- Gerstmann-Straussler-Scheinker Disease [C16.320.400.350]
- Hepatolenticular Degeneration [C16.320.400.361]
- Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367]
- Pantothenate Kinase-Associated Neurodegeneration [C16.320.400.375]
- Hereditary Motor and Sensory Neuropathies [C16.320.400.400]
- Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415]
- Huntington Disease [C16.320.400.430]
- Lafora Disease [C16.320.400.480]
- Lesch-Nyhan Syndrome [C16.320.400.500]
- Menkes Kinky Hair Syndrome [C16.320.400.520]
- Mental Retardation, X-Linked [C16.320.400.525]
- Adrenoleukodystrophy [C16.320.400.525.124]
- Coffin-Lowry Syndrome [C16.320.400.525.249]
- Fragile X Syndrome [C16.320.400.525.500]
- Lesch-Nyhan Syndrome [C16.320.400.525.625]
- Menkes Kinky Hair Syndrome [C16.320.400.525.687]
- Mucopolysaccharidosis II [C16.320.400.525.750]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.400.525.875]
- Rett Syndrome [C16.320.400.525.937]
- Myotonia Congenita [C16.320.400.540]
- Myotonic Dystrophy [C16.320.400.542]
- Neuroacanthocytosis [C16.320.400.550]
- Neurofibromatoses [C16.320.400.560]
- Neuronal Ceroid-Lipofuscinoses [C16.320.400.600]
- Optic Atrophies, Hereditary [C16.320.400.630]
- Rett Syndrome [C16.320.400.700]
- Spinal Muscular Atrophies of Childhood [C16.320.400.765]
- Spinocerebellar Degenerations [C16.320.400.780]
- Tourette Syndrome [C16.320.400.820]
- Tuberous Sclerosis [C16.320.400.880]
- Unverricht-Lundborg Syndrome [C16.320.400.940]
- Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427]
- Kallmann Syndrome [C16.320.467]
- Kartagener Syndrome [C16.320.480]
- Marfan Syndrome [C16.320.540]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Alkaptonuria [C16.320.565.100.187]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.100.275]
- Citrullinemia [C16.320.565.100.340]
- Homocystinuria [C16.320.565.100.470]
- Hyperargininemia [C16.320.565.100.475]
- Hyperglycinemia, Nonketotic [C16.320.565.100.477]
- Hyperhomocysteinemia [C16.320.565.100.480]
- Hyperlysinemias [C16.320.565.100.544]
- Maple Syrup Urine Disease [C16.320.565.100.608]
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614]
- Multiple Carboxylase Deficiency [C16.320.565.100.620]
- Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.100.729]
- Phenylketonurias [C16.320.565.100.766]
- Tyrosinemias [C16.320.565.100.880]
- Amino Acid Transport Disorders, Inborn [C16.320.565.151]
- Amyloidosis, Familial [C16.320.565.176]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.189.162]
- Cerebral Amyloid Angiopathy, Familial [C16.320.565.189.168]
- Citrullinemia [C16.320.565.189.175]
- Galactosemias [C16.320.565.189.320]
- Hartnup Disease [C16.320.565.189.355]
- Hepatolenticular Degeneration [C16.320.565.189.360]
- Homocystinuria [C16.320.565.189.365]
- Hyperargininemia [C16.320.565.189.370]
- Hyperglycinemia, Nonketotic [C16.320.565.189.375]
- Hyperlysinemias [C16.320.565.189.380]
- Leigh Disease [C16.320.565.189.412]
- Lesch-Nyhan Syndrome [C16.320.565.189.425]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Fucosidosis [C16.320.565.189.435.295]
- Glycogen Storage Disease Type II [C16.320.565.189.435.340]
- Mucolipidoses [C16.320.565.189.435.590]
- Sialic Acid Storage Disease [C16.320.565.189.435.810]
- Sphingolipidoses [C16.320.565.189.435.825]
- Fabry Disease [C16.320.565.189.435.825.200]
- Farber Lipogranulomatosis [C16.320.565.189.435.825.250]
- Gangliosidoses [C16.320.565.189.435.825.300]
- Gaucher Disease [C16.320.565.189.435.825.400]
- Leukodystrophy, Globoid Cell [C16.320.565.189.435.825.590]
- Niemann-Pick Diseases [C16.320.565.189.435.825.700]
- Sea-Blue Histiocyte Syndrome [C16.320.565.189.435.825.775]
- Sulfatidosis [C16.320.565.189.435.825.850]
- Maple Syrup Urine Disease [C16.320.565.189.520]
- MELAS Syndrome [C16.320.565.189.535]
- Menkes Kinky Hair Syndrome [C16.320.565.189.540]
- MERRF Syndrome [C16.320.565.189.545]
- Oculocerebrorenal Syndrome [C16.320.565.189.640]
- Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.189.650]
- Peroxisomal Disorders [C16.320.565.189.680]
- Phenylketonurias [C16.320.565.189.687]
- Pyruvate Carboxylase Deficiency Disease [C16.320.565.189.725]
- Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.189.750]
- Tyrosinemias [C16.320.565.189.875]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Carbohydrate-Deficient Glycoprotein Syndrome [C16.320.565.202.125]
- Fructose Metabolism, Inborn Errors [C16.320.565.202.251]
- Fucosidosis [C16.320.565.202.303]
- Galactosemias [C16.320.565.202.355]
- Glucosephosphate Dehydrogenase Deficiency [C16.320.565.202.402]
- Glycogen Storage Disease [C16.320.565.202.449]
- Glycogen Storage Disease Type I [C16.320.565.202.449.448]
- Glycogen Storage Disease Type II [C16.320.565.202.449.500]
- Glycogen Storage Disease Type IIb [C16.320.565.202.449.510]
- Glycogen Storage Disease Type III [C16.320.565.202.449.520]
- Glycogen Storage Disease Type IV [C16.320.565.202.449.540]
- Glycogen Storage Disease Type V [C16.320.565.202.449.560]
- Glycogen Storage Disease Type VI [C16.320.565.202.449.580]
- Glycogen Storage Disease Type VII [C16.320.565.202.449.600]
- Glycogen Storage Disease Type VIII [C16.320.565.202.449.620]
- Hyperoxaluria, Primary [C16.320.565.202.460]
- Lactose Intolerance [C16.320.565.202.589]
- Mannosidase Deficiency Diseases [C16.320.565.202.607]
- Mucolipidoses [C16.320.565.202.670]
- Mucopolysaccharidoses [C16.320.565.202.715]
- Mucopolysaccharidosis I [C16.320.565.202.715.640]
- Mucopolysaccharidosis II [C16.320.565.202.715.645]
- Mucopolysaccharidosis III [C16.320.565.202.715.650]
- Mucopolysaccharidosis IV [C16.320.565.202.715.655]
- Mucopolysaccharidosis VI [C16.320.565.202.715.670]
- Mucopolysaccharidosis VII [C16.320.565.202.715.675]
- Multiple Carboxylase Deficiency [C16.320.565.202.720]
- Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
- Cytochrome-c Oxidase Deficiency [C16.320.565.240]
- Hyperbilirubinemia, Hereditary [C16.320.565.300]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Hyperlipidemia, Familial Combined [C16.320.565.398.450]
- Hyperlipoproteinemia Type I [C16.320.565.398.465]
- Hyperlipoproteinemia Type II [C16.320.565.398.481]
- Hyperlipoproteinemia Type III [C16.320.565.398.483]
- Hyperlipoproteinemia Type IV [C16.320.565.398.487]
- Hyperlipoproteinemia Type V [C16.320.565.398.493]
- Hypolipoproteinemias [C16.320.565.398.500]
- Lipidoses [C16.320.565.398.641]
- Cholesterol Ester Storage Disease [C16.320.565.398.641.201]
- Neuronal Ceroid-Lipofuscinoses [C16.320.565.398.641.509]
- Sjogren-Larsson Syndrome [C16.320.565.398.641.723]
- Sphingolipidoses [C16.320.565.398.641.803]
- Fabry Disease [C16.320.565.398.641.803.300]
- Farber Lipogranulomatosis [C16.320.565.398.641.803.325]
- Gangliosidoses [C16.320.565.398.641.803.350]
- Gaucher Disease [C16.320.565.398.641.803.441]
- Leukodystrophy, Globoid Cell [C16.320.565.398.641.803.585]
- Niemann-Pick Diseases [C16.320.565.398.641.803.730]
- Sea-Blue Histiocyte Syndrome [C16.320.565.398.641.803.850]
- Sulfatidosis [C16.320.565.398.641.803.925]
- Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
- Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
- Lysosomal Storage Diseases [C16.320.565.595]
- Aspartylglucosaminuria [C16.320.565.595.100]
- Cholesterol Ester Storage Disease [C16.320.565.595.201]
- Cystinosis [C16.320.565.595.377]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Fucosidosis [C16.320.565.595.554.295]
- Glycogen Storage Disease Type II [C16.320.565.595.554.340]
- Mucolipidoses [C16.320.565.595.554.590]
- Sialic Acid Storage Disease [C16.320.565.595.554.810]
- Sphingolipidoses [C16.320.565.595.554.825]
- Fabry Disease [C16.320.565.595.554.825.200]
- Farber Lipogranulomatosis [C16.320.565.595.554.825.250]
- Gangliosidoses [C16.320.565.595.554.825.300]
- Gaucher Disease [C16.320.565.595.554.825.400]
- Leukodystrophy, Globoid Cell [C16.320.565.595.554.825.590]
- Niemann-Pick Diseases [C16.320.565.595.554.825.700]
- Sea-Blue Histiocyte Syndrome [C16.320.565.595.554.825.775]
- Sulfatidosis [C16.320.565.595.554.825.850]
- Mannosidase Deficiency Diseases [C16.320.565.595.577]
- Mucopolysaccharidoses [C16.320.565.595.600]
- Mucopolysaccharidosis I [C16.320.565.595.600.640]
- Mucopolysaccharidosis II [C16.320.565.595.600.645]
- Mucopolysaccharidosis III [C16.320.565.595.600.650]
- Mucopolysaccharidosis IV [C16.320.565.595.600.655]
- Mucopolysaccharidosis VI [C16.320.565.595.600.670]
- Mucopolysaccharidosis VII [C16.320.565.595.600.675]
- Metal Metabolism, Inborn Errors [C16.320.565.618]
- Hemochromatosis [C16.320.565.618.337]
- Hepatolenticular Degeneration [C16.320.565.618.403]
- Hypophosphatasia [C16.320.565.618.482]
- Hypophosphatemia, Familial [C16.320.565.618.544]
- Menkes Kinky Hair Syndrome [C16.320.565.618.590]
- Paralyses, Familial Periodic [C16.320.565.618.711]
- Pseudohypoparathyroidism [C16.320.565.618.815]
- Peroxisomal Disorders [C16.320.565.663]
- Acatalasia [C16.320.565.663.025]
- Adrenoleukodystrophy [C16.320.565.663.112]
- Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.200]
- Mevalonate Kinase Deficiency [C16.320.565.663.480]
- Refsum Disease [C16.320.565.663.760]
- Refsum Disease, Infantile [C16.320.565.663.865]
- Zellweger Syndrome [C16.320.565.663.970]
- Porphyrias [C16.320.565.708]
- Porphyria, Erythropoietic [C16.320.565.708.250]
- Porphyrias, Hepatic [C16.320.565.708.400]
- Coproporphyria, Hereditary [C16.320.565.708.400.074]
- Porphyria, Acute Intermittent [C16.320.565.708.400.150]
- Porphyria Cutanea Tarda [C16.320.565.708.400.250]
- Porphyria, Hepatoerythropoietic [C16.320.565.708.400.437]
- Porphyria, Variegate [C16.320.565.708.400.625]
- Protoporphyria, Erythropoietic [C16.320.565.708.400.812]
- Progeria [C16.320.565.753]
- Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798]
- Renal Tubular Transport, Inborn Errors [C16.320.565.861]
- Acidosis, Renal Tubular [C16.320.565.861.093]
- Fanconi Syndrome [C16.320.565.861.450]
- Glycosuria, Renal [C16.320.565.861.532]
- Hypophosphatemia, Familial [C16.320.565.861.647]
- Oculocerebrorenal Syndrome [C16.320.565.861.750]
- Pseudohypoaldosteronism [C16.320.565.861.770]
- Renal Aminoacidurias [C16.320.565.861.885]
- Steroid Metabolism, Inborn Errors [C16.320.565.925]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Muscular Dystrophies [C16.320.577]
- Distal Myopathies [C16.320.577.074]
- Glycogen Storage Disease Type VII [C16.320.577.149]
- Muscular Dystrophies, Limb-Girdle [C16.320.577.280]
- Muscular Dystrophy, Duchenne [C16.320.577.300]
- Muscular Dystrophy, Emery-Dreifuss [C16.320.577.350]
- Muscular Dystrophy, Facioscapulohumeral [C16.320.577.400]
- Muscular Dystrophy, Oculopharyngeal [C16.320.577.450]
- Myotonic Dystrophy [C16.320.577.500]
- Myasthenic Syndromes, Congenital [C16.320.590]
- Nail-Patella Syndrome [C16.320.600]
- Neoplastic Syndromes, Hereditary [C16.320.700]
- Adenomatous Polyposis Coli [C16.320.700.100]
- Basal Cell Nevus Syndrome [C16.320.700.175]
- Colorectal Neoplasms, Hereditary Nonpolyposis [C16.320.700.250]
- Dysplastic Nevus Syndrome [C16.320.700.305]
- Exostoses, Multiple Hereditary [C16.320.700.330]
- Hamartoma Syndrome, Multiple [C16.320.700.435]
- Li-Fraumeni Syndrome [C16.320.700.600]
- Multiple Endocrine Neoplasia [C16.320.700.630]
- Wilms Tumor [C16.320.700.642]
- Neurofibromatoses [C16.320.700.645]
- Peutz-Jeghers Syndrome [C16.320.700.705]
- Osteogenesis Imperfecta [C16.320.737]
- Pain Insensitivity, Congenital [C16.320.775]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Cutis Laxa [C16.320.850.180]
- Darier Disease [C16.320.850.190]
- Dermatitis, Atopic [C16.320.850.210]
- Dyskeratosis Congenita [C16.320.850.235]
- Ectodermal Dysplasia [C16.320.850.250]
- Ectodermal Dysplasia 1, Anhidrotic [C16.320.850.250.198]
- Ectodermal Dysplasia 3, Anhidrotic [C16.320.850.250.298]
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.320.850.250.348]
- Ellis-Van Creveld Syndrome [C16.320.850.250.398]
- Focal Dermal Hypoplasia [C16.320.850.250.424]
- Neurocutaneous Syndromes [C16.320.850.250.712]
- Pachyonychia Congenita [C16.320.850.250.856]
- Ehlers-Danlos Syndrome [C16.320.850.260]
- Epidermolysis Bullosa [C16.320.850.275]
- Ichthyosiform Erythroderma, Congenital [C16.320.850.400]
- Ichthyosis Bullosa of Siemens [C16.320.850.402]
- Ichthyosis Vulgaris [C16.320.850.405]
- Ichthyosis, X-Linked [C16.320.850.408]
- Incontinentia Pigmenti [C16.320.850.420]
- Keratoderma, Palmoplantar [C16.320.850.475]
- Leukokeratosis, Hereditary Mucosal [C16.320.850.542]
- Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595]
- Pemphigus, Benign Familial [C16.320.850.700]
- Porokeratosis [C16.320.850.730]
- Porphyria, Erythropoietic [C16.320.850.738]
- Porphyrias, Hepatic [C16.320.850.742]
- Pseudoxanthoma Elasticum [C16.320.850.750]
- Rothmund-Thomson Syndrome [C16.320.850.765]
- Sjogren-Larsson Syndrome [C16.320.850.820]
- Trichothiodystrophy Syndromes [C16.320.850.895]
- Xeroderma Pigmentosum [C16.320.850.970]
- Werner Syndrome [C16.320.925]
- Infant, Newborn, Diseases [C16.614]
- Amniotic Band Syndrome [C16.614.042]
- Anemia, Neonatal [C16.614.053]
- Asphyxia Neonatorum [C16.614.092]
- Birth Injuries [C16.614.131]
- Cystic Fibrosis [C16.614.213]
- Epilepsy, Benign Neonatal [C16.614.258]
- Erythroblastosis, Fetal [C16.614.304]
- Hemorrhagic Disease of Newborn [C16.614.378]
- Hernia, Umbilical [C16.614.390]
- Hydrocephalus [C16.614.414]
- Hydrophthalmos [C16.614.438]
- Hyperbilirubinemia, Neonatal [C16.614.451]
- Hyperostosis, Cortical, Congenital [C16.614.465]
- Ichthyosis [C16.614.492]
- Infant, Premature, Diseases [C16.614.521]
- Meconium Aspiration Syndrome [C16.614.580]
- Mobius Syndrome [C16.614.595]
- Neonatal Abstinence Syndrome [C16.614.610]
- Nystagmus, Congenital [C16.614.643]
- Ophthalmia Neonatorum [C16.614.677]
- Persistent Fetal Circulation Syndrome [C16.614.694]
- Persistent Hyperinsulinemia Hypoglycemia of Infancy [C16.614.716]
- Rothmund-Thomson Syndrome [C16.614.760]
- Sclerema Neonatorum [C16.614.810]
- Severe Combined Immunodeficiency [C16.614.815]
- Syphilis, Congenital [C16.614.868]
- Thanatophoric Dysplasia [C16.614.890]
- Thrombocytopenia, Neonatal Alloimmune [C16.614.899]
- Toxoplasmosis, Congenital [C16.614.909]
- Wolman Disease [C16.614.947]
- Congenital Abnormalities [C16.131]
Last reviewed: 14 October 2008
Last updated: 14 October 2008
First published: 14 October 2008
Metadata| Permanence level: Permanent: Dynamic Content