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Lethal Congenital Contracture Syndrome 6 Long QT Syndrome 14 Combined Oxidative Phosphorylation Deficiency Type 24 Charcot-Marie-Tooth Disease Type 2T Progressive Myoclonic Epilepsy Type 8 Osteogenesis Imperfecta Type 16 Congenital Myasthenic Syndrome 14 Focal Segmental Glomerulosclerosis Type 9 Congenital Fibrosis of Extraocular Muscles Type 5 Autosomal Dominant Thrombocytopenia 5 Lissencephaly 6 with Microcephaly Early Infantile Epileptic Encephalopathy Type 28 Autosomal Recessive Spinocerebellar Ataxia 18 Ruijs Aalfs Syndrome Polyglucosan Body Myopathy Type 2 Autosomal Recessive Mental Retardation Type 47 Retinal Dystrophy and Obesity Progressive Myoclonic Epilepsy Type 7 Platelet-Type Bleeding Disorder 19 Autosomal Recessive Microcephaly with Chorioretinopathy Type 2 Macular Dystrophy with Central Cone Involvement Familial Thoracic Aortic Aneurysm 9 Nemaline Myopathy Type 10 Charcot-Marie-Tooth Disease Type 2S Hypomyelinating Leukodystrophy Type 9 Early Infantile Epileptic Encephalopathy Type 27 Autosomal Recessive Spinocerebellar Ataxia Type 17 Immunodeficiency Type 38 with Basal Ganglia Calcification Macular Degeneration, Early Onset Autosomal Recessive Mental Retardation Type 46 Familial Cold Autoinflammatory Syndrome Type 4 Polyendocrine - Polyneuropathy Syndrome Mitochondrial Complex 3 Deficiency Nuclear Type 9 Autoimmune Lymphoproliferative Syndrome Type 5 Immunodeficiency Type 37 Muscular Dystrophy-Dystroglycanopathy Type C12 SIFD Syndrome Autosomal Dominant Mental Retardation Type 30 Pontocerebellar Hypoplasia Type 1C Autosomal Recessive Primary Microcephaly Type 12 Proliferating Angioendotheliomatosis Autosomal Dominant Mental Retardation Type 29 Neonatal Inflammatory Skin and Bowel Disease 2 Small Intestinal Angiodysplasia Early Infantile Epileptic Encephalopathy Type 26 Variant Angina Pectoris Muscular Dystrophy-Dystroglycanopathy Type C7 Autosomal Recessive Primary Microcephaly Type 13 Reflex Sympathetic Dystrophy Combined Oxidative Phosphorylation Deficiency 22 Autosomal Recessive Deafness 103 Recessive Intermediate Charcot-Marie-Tooth Disease Type D Neu-Laxova Syndrome Type 2 Focal Segmental Glomerulosclerosis Type 8 Hypogonadotropic Hypogonadism Type 22 Thoracic Outlet Syndrome Adams-Oliver Syndrome Type 5 Hyperphosphatasia with Mental Retardation Type 5 Nutcracker Esophagus Angelica Extract Vertebral Artery Aneurysm Mitral Valve Insufficiency Focal Segmental Glomerulosclerosis Type 7 Cerebral Embolism Splenic Infarction Autosomal Recessive Mental Retardation Type 45 Cone Rod Dystrophy Type 20 Cardiac Dyskinesia Ventricular Aneurysm Vesicoureteral Reflux 8 Autosomal Recessive Centronuclear Myopathy 5 Cushing Syndrome due to Macronodular Adrenal Hyperplasia Infantile-Onset Multisystem Autoimmune Disease Type 1 Thoracic Aortic Aneurysm Splenic Artery Aneurysm Myopia Type 24 Renal Artery Aneurysm Autosomal Recessive Mental Retardation Type 44 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 Popliteal Artery Aneurysm Popliteal Aneurysm Peripheral Arteriovenous Aneurysm Progressive Encephalopathy with Lipodystrophy Lower Extremity Arterial Aneurysm Epiphyseal Chondrodysplasia Type Miura Retinitis Pigmentosa 70 Jugular Foramen Syndrome Internal Carotid Artery Aneurysm Tapia's Syndrome Hereditary Hemorrhagic Telangiectasia Dilated Cardiomyopathy 1NN Hepatic Artery Aneurysm Frontotemporal Dementia with Motor Neuron Disease Type 2 Ductus Arteriosus Aneurysm Diamond-Blackfan Anemia Type 13 Lymphatic Malformation Type 4 Early Infantile Epileptic Encephalopathy Type 25 Spinal and Bulbar Muscular Atrophy Papilledema Platelet-Type Bleeding Disorder 18