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Abetalipoproteinemia 2 studies
Abnormalities, Drug-Induced 1 study
Abnormalities, Multiple 103 studies
Abnormalities, Radiation-Induced 3 studies
Achondroplasia 1 study
Acrodermatitis 8 studies
Adenomatous Polyposis Coli 20 studies
Adrenal Hyperplasia, Congenital 16 studies
Adrenoleukodystrophy 29 studies
Afibrinogenemia 1 study
Alagille Syndrome 3 studies
Albinism 8 studies
Albinism, Ocular 1 study
Albinism, Oculocutaneous 6 studies
Alkaptonuria 2 studies
Alpha-Mannosidosis 5 studies
Alpha-Thalassemia 3 studies
Amino Acid Metabolism, Inborn Errors 56 studies
Amyloid Neuropathies, Familial 3 studies
Amyloidosis, Familial 3 studies
Andersen Syndrome 2 studies
Anemia, Diamond-Blackfan 20 studies
Anemia, Hemolytic, Congenital 221 studies
Anemia, Hemolytic, Congenital Nonspherocytic 1 study
Anemia, Neonatal 7 studies
Anemia, Sickle Cell 167 studies
Anencephaly 4 studies
Angelman Syndrome 5 studies
Angioedema, Hereditary 21 studies
Aniridia 8 studies
Anodontia 2 studies
Anophthalmos 2 studies
Antithrombin III Deficiency 4 studies
Aortic Coarctation 7 studies
Arachnodactyly 10 studies
Arnold-Chiari Malformation 16 studies
Arrhythmogenic Right Ventricular Dysplasia 3 studies
Arteriovenous Fistula 17 studies
Arteriovenous Malformations 24 studies
Arthritis, Gouty 5 studies
Asphyxia Neonatorum 10 studies
Ataxia Telangiectasia 35 studies
Bardet-Biedl Syndrome 3 studies
Basal Cell Nevus Syndrome 7 studies
Beta-Thalassemia 42 studies
Biliary Atresia 7 studies
Birth Injuries 3 studies
Bladder Exstrophy 1 study
Bloom Syndrome 1 study
Brain Diseases, Metabolic, Inborn 190 studies
Bronchopulmonary Dysplasia 45 studies
Brugada Syndrome 5 studies
Canavan Disease 3 studies
Carbamoyl-Phosphate Synthase I Deficiency Disease 1 study
Cardiomyopathy, Hypertrophic, Familial 3 studies
Cardiovascular Abnormalities 266 studies
Caroli Disease 1 study
Charcot-Marie-Tooth Disease 45 studies
Cholesterol Ester Storage Disease 3 studies
Chorioamnionitis 13 studies
Choroideremia 1 study
Chromosome Disorders 113 studies
Citrullinemia 2 studies
Cleft Lip 13 studies
Cleft Palate 20 studies
Cockayne Syndrome 1 study
Coloboma 2 studies
Colorectal Neoplasms, Hereditary Nonpolyposis 17 studies
Congenital Abnormalities 1305 studies
Congenital Hypothyroidism 4 studies
Corneal Dystrophies, Hereditary 12 studies
Craniofacial Abnormalities 36 studies
Craniosynostoses 7 studies
Crigler-Najjar Syndrome 1 study
Cryptorchidism 4 studies
Cutis Laxa 4 studies
Cystic Adenomatoid Malformation of Lung, Congenital 2 studies
Cystic Fibrosis 286 studies
Cystinosis 11 studies
Cystinuria 2 studies
Dermatitis, Atopic 156 studies
Dextrocardia 12 studies
DiGeorge Syndrome 16 studies
Digestive System Abnormalities 70 studies
Dihydropyrimidine Dehydrogenase Deficiency 6 studies
Double Outlet Right Ventricle 1 study
Down Syndrome 36 studies
Ductus Arteriosus, Patent 24 studies
Dwarfism 97 studies
Dyskeratosis Congenita 4 studies
Dysplastic Nevus Syndrome 3 studies
Ebstein Anomaly 1 study
Ectodermal Dysplasia 6 studies
Ehlers-Danlos Syndrome 5 studies
Eisenmenger Complex 6 studies
Elliptocytosis, Hereditary 1 study
Endocardial Cushion Defects 5 studies
Epidermolysis Bullosa 13 studies
Epidermolysis Bullosa Acquisita 1 study
Epidermolysis Bullosa Dystrophica 4 studies
Epidermolysis Bullosa, Junctional 1 study
Erythroblastosis, Fetal 4 studies
Esophageal Atresia 1 study
Exostoses, Multiple Hereditary 3 studies
Eye Abnormalities 11 studies
Eye Diseases, Hereditary 79 studies
Fabry Disease 45 studies
Factor XIII Deficiency 4 studies
Familial Mediterranean Fever 7 studies
Fanconi Anemia 33 studies
Fanconi Syndrome 8 studies
Favism 1 study
Fetal Alcohol Syndrome 10 studies
Fetal Diseases 58 studies
Fetal Growth Retardation 31 studies
Fetal Hypoxia 1 study
Fetal Macrosomia 3 studies
Fetofetal Transfusion 1 study
Fetomaternal Transfusion 1 study
Focal Dermal Hypoplasia 1 study
Foramen Ovale, Patent 15 studies
Fragile X Syndrome 13 studies
Friedreich Ataxia 12 studies
Fuchs' Endothelial Dystrophy 8 studies
Fucosidosis 4 studies
Funnel Chest 4 studies
Galactosemias 2 studies
Gangliosidoses 8 studies
Gangliosidoses, GM2 7 studies
Gangliosidosis, GM1 3 studies
Gastroschisis 3 studies
Gaucher Disease 36 studies
Genetic Diseases, Inborn 1960 studies
Genetic Diseases, X-Linked 195 studies
Glucosephosphate Dehydrogenase Deficiency 2 studies
Glycogen Storage Disease 33 studies
Glycogen Storage Disease Type I 8 studies
Glycogen Storage Disease Type II 31 studies
Glycogen Storage Disease Type VII 1 study
Gonadal Dysgenesis 32 studies
Gout 28 studies
Granulomatous Disease, Chronic 24 studies
Gyrate Atrophy 2 studies
Hamartoma Syndrome, Multiple 4 studies
Heart Defects, Congenital 227 studies
Heart Septal Defects 39 studies
Heart Septal Defects, Atrial 24 studies
Heart Septal Defects, Ventricular 17 studies
Hemochromatosis 23 studies
Hemoglobin SC Disease 12 studies
Hemoglobinopathies 227 studies
Hemophilia A 114 studies
Hemophilia B 31 studies
Hepatolenticular Degeneration 4 studies
Hereditary Motor and Sensory Neuropathies 45 studies
Heredodegenerative Disorders, Nervous System 249 studies
Hermanski-Pudlak Syndrome 5 studies
Hernia, Umbilical 9 studies
Hip Dislocation, Congenital 19 studies
Hirschsprung Disease 3 studies
Holoprosencephaly 5 studies
Homocystinuria 2 studies
Huntington Disease 42 studies
Hyaline Membrane Disease 5 studies
Hydrocephalus 28 studies
Hydrophthalmos 3 studies
Hydrops Fetalis 1 study
Hyper-IgM Immunodeficiency Syndrome, Type 1 9 studies
Hyperbilirubinemia, Neonatal 9 studies
Hyperhomocysteinemia 13 studies
Hyperkeratosis, Epidermolytic 1 study
Hyperlipidemia, Familial Combined 21 studies
Hyperlipoproteinemia Type I 1 study
Hyperlipoproteinemia Type II 40 studies
Hyperlipoproteinemia Type III 3 studies
Hyperlipoproteinemia Type IV 4 studies
Hyperlipoproteinemia Type V 3 studies
Hyperoxaluria, Primary 6 studies
Hypoalphalipoproteinemias 4 studies
Hypobetalipoproteinemias 4 studies
Hypokalemic Periodic Paralysis 2 studies
Hypolipoproteinemias 8 studies
Hypophosphatasia 3 studies
Hypophosphatemia, Familial 6 studies
Hypophosphatemic Rickets, X-Linked Dominant 5 studies
Hypoplastic Left Heart Syndrome 12 studies
Ichthyosis 9 studies
Ichthyosis Vulgaris 1 study
Ichthyosis, Lamellar 3 studies
Ichthyosis, X-Linked 1 study
Infant, Newborn, Diseases 509 studies
Infant, Premature, Diseases 94 studies
Intracranial Arteriovenous Malformations 2 studies
Jaundice, Neonatal 4 studies
Kallmann Syndrome 12 studies
Kartagener Syndrome 10 studies
Keratoderma, Palmoplantar 1 study
Keratoderma, Palmoplantar, Diffuse 1 study
Keratosis Follicularis 3 studies
Klinefelter Syndrome 5 studies
Lactose Intolerance 4 studies
Lafora Disease 1 study
Laron Syndrome 2 studies
Lesch-Nyhan Syndrome 1 study
Leukodystrophy, Globoid Cell 7 studies
Leukodystrophy, Metachromatic 10 studies
Leukomalacia, Periventricular 12 studies
Li-Fraumeni Syndrome 1 study
Lipid Metabolism, Inborn Errors 186 studies
Lipidoses 104 studies
Long QT Syndrome 15 studies
Lymphatic Abnormalities 5 studies
Lysosomal Storage Diseases 175 studies
Malformations of Cortical Development 16 studies
Mannosidase Deficiency Diseases 5 studies
Marfan Syndrome 10 studies
Maxillofacial Abnormalities 19 studies
Meconium Aspiration Syndrome 7 studies
MELAS Syndrome 3 studies
Meningocele 3 studies
Meningomyelocele 4 studies
Menkes Kinky Hair Syndrome 2 studies
Metabolism, Inborn Errors 481 studies
Mevalonate Kinase Deficiency 1 study
Microcephaly 2 studies
Microphthalmos 3 studies
Mineralocorticoid Excess Syndrome, Apparent 1 study
Mobius Syndrome 2 studies
Mucolipidoses 4 studies
Mucopolysaccharidoses 34 studies
Mucopolysaccharidosis I 21 studies
Mucopolysaccharidosis II 8 studies
Mucopolysaccharidosis IV 3 studies
Mucopolysaccharidosis VI 9 studies
Mucopolysaccharidosis VII 1 study
Multicystic Dysplastic Kidney 1 study
Multiple Endocrine Neoplasia 9 studies
Muscular Dystrophies 56 studies
Muscular Dystrophies, Limb-Girdle 6 studies
Muscular Dystrophy, Duchenne 32 studies
Muscular Dystrophy, Facioscapulohumeral 5 studies
Muscular Dystrophy, Oculopharyngeal 2 studies
Musculoskeletal Abnormalities 74 studies
Myasthenic Syndromes, Congenital 1 study
Myotonia Congenita 1 study
Myotonic Dystrophy 18 studies
Nail-Patella Syndrome 1 study
Neonatal Abstinence Syndrome 7 studies
Neoplastic Syndromes, Hereditary 123 studies
Nephritis, Hereditary 3 studies
Nervous System Malformations 64 studies
Neural Tube Defects 25 studies
Neuroacanthocytosis 1 study
Neurocutaneous Syndromes 69 studies
Neurofibromatoses 42 studies
Neurofibromatosis 1 42 studies
Neurofibromatosis 2 8 studies
Neuronal Ceroid-Lipofuscinoses 5 studies
Neuronal Migration Disorders 1 study
Niemann-Pick Disease, Type A 8 studies
Niemann-Pick Disease, Type B 1 study
Niemann-Pick Disease, Type C 8 studies
Niemann-Pick Diseases 8 studies
Noonan Syndrome 2 studies
Nystagmus, Congenital 3 studies
Oculocerebrorenal Syndrome 3 studies
Ophthalmia Neonatorum 1 study
Optic Atrophies, Hereditary 8 studies
Optic Atrophy, Autosomal Dominant 1 study
Optic Atrophy, Hereditary, Leber 2 studies
Ornithine Carbamoyltransferase Deficiency Disease 5 studies
Orofaciodigital Syndromes 1 study
Osteogenesis Imperfecta 13 studies
Pachyonychia Congenita 1 study
Paralyses, Familial Periodic 3 studies
Paralysis, Hyperkalemic Periodic 1 study
Pemphigus, Benign Familial 1 study
Peroxisomal Disorders 16 studies
Persistent Fetal Circulation Syndrome 11 studies
Persistent Hyperinsulinemia Hypoglycemia of Infancy 3 studies
Peutz-Jeghers Syndrome 5 studies
Phenylketonuria, Maternal 1 study
Phenylketonurias 24 studies
Piebaldism 1 study
Platybasia 1 study
Polydactyly 2 studies
Porokeratosis 1 study
Porphyria Cutanea Tarda 3 studies
Porphyria, Acute Intermittent 3 studies
Porphyria, Erythropoietic 15 studies
Porphyrias 15 studies
Porphyrias, Hepatic 8 studies
Port-Wine Stain 14 studies
Prader-Willi Syndrome 14 studies
Progeria 4 studies
Protein C Deficiency 2 studies
Proteus Syndrome 1 study
Protoporphyria, Erythropoietic 3 studies
Pseudohermaphroditism 2 studies
Pseudohypoaldosteronism 4 studies
Pseudohypoparathyroidism 4 studies
Pseudopseudohypoparathyroidism 2 studies
Pseudoxanthoma Elasticum 4 studies
Pulmonary Atresia 2 studies
Purine-Pyrimidine Metabolism, Inborn Errors 27 studies
Refsum Disease 2 studies
Refsum Disease, Infantile 2 studies
Respiratory Distress Syndrome, Newborn 18 studies
Retinitis Pigmentosa 35 studies
Retinopathy of Prematurity 28 studies
Retrognathism 1 study
Rett Syndrome 12 studies
Sandhoff Disease 6 studies
Septo-Optic Dysplasia 12 studies
Severe Combined Immunodeficiency 23 studies
Sex Differentiation Disorders 67 studies
Sickle Cell Trait 5 studies
Situs Inversus 14 studies
Skin Abnormalities 65 studies
Skin Diseases, Genetic 219 studies
Smith-Lemli-Opitz Syndrome 9 studies
Spastic Paraplegia, Hereditary 1 study
Sphingolipidoses 101 studies
Spinal Dysraphism 16 studies
Spinal Muscular Atrophies of Childhood 6 studies
Spinocerebellar Ataxias 8 studies
Spinocerebellar Degenerations 21 studies
Syndactyly 2 studies
Tangier Disease 1 study
Tay-Sachs Disease 8 studies
Telangiectasia, Hereditary Hemorrhagic 16 studies
Tetralogy of Fallot 17 studies
Thalassemia 101 studies
Thrombasthenia 2 studies
Tooth Abnormalities 2 studies
Tourette Syndrome 49 studies
Toxoplasmosis, Congenital 1 study
Transposition of Great Vessels 10 studies
Tricuspid Atresia 4 studies
Truncus Arteriosus, Persistent 1 study
Tuberous Sclerosis 13 studies
Turner Syndrome 34 studies
Tyrosinemias 2 studies
Unverricht-Lundborg Syndrome 4 studies
Urogenital Abnormalities 58 studies
Usher Syndromes 5 studies
Vascular Malformations 43 studies
Velopharyngeal Insufficiency 1 study
Von Willebrand Disease 26 studies
WAGR Syndrome 1 study
Werner Syndrome 1 study
Williams Syndrome 4 studies
Wilms Tumor 110 studies
Wiskott-Aldrich Syndrome 14 studies
Wolff-Parkinson-White Syndrome 2 studies
Wolman Disease 3 studies
X-Linked Combined Immunodeficiency Diseases 3 studies
Xanthomatosis, Cerebrotendinous 2 studies
Xeroderma Pigmentosum 6 studies
Zellweger Syndrome 2 studies
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