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Enamel Hypoplasia Cataracts and Aqueductal Stenosis Proprotein Convertase 1 Deficiency Postoperative Dehiscence Thost-Unna Palmoplantar Keratoderma Acute Peritonitis Multiple Epiphyseal Dysplasia due to Collagen 9 Anomaly Intravenous Drugs Abarelix Familial Hemiplegic Migraine Type 1 Abacavir Anaphylaxis Usher Syndrome Type 1D Sexual Dysfunction Benign Adult Familial Myoclonic Epilepsy Intrahepatic Cholestasis Toxic Hepatitis MURCS Association Congenital Disorder of Glycosylation Type 1D Drug-induced Cholestatic Hepatitis Brachydactyly Type A2 Epithelial Cyst Cholestatic Jaundice Autosomal Dominant Spastic Paraplegia Type 9A Matthew Wood Syndrome Verloes-Bourguignon Syndrome Autosomal Dominant Deafness 11 Alopecia CAPOS Syndrome Ectodermal Dysplasia with Natal Teeth Type Turnpenny Acne Vulgaris Martinez-Frias Syndrome Yim-Ebbin Syndrome Autosomal Dominant Deafness 9 Priapism Charcot-Marie-Tooth Disease Type 4B1 Peliosis Hepatis Cerebro-Facio-Articular Syndrome Myofibrillar Myopathy Type 1 Charcot-Marie-Tooth Disease Type 4D 17-Hydroxycorticosteroid Hereditary Congenital Facial Paresis Type 1 Charcot-Marie-Tooth Disease Type 2D Congenital Hypotrichosis with Juvenile Macular Dystrophy Opitz G/BBB Syndrome Type 2 Rapp-Hodgkin Syndrome Pachyonychia Congenita Type 2 Hyper-IgM Syndrome Type 5 Hyper-IgM Syndrome Type 3 Hyper-IgM Syndrome Type 2 Congenital Generalized Lipodystrophy Type 2 Congenital Generalized Lipodystrophy Type 1 Pachyonychia Congenita Type 1 Lymphatic Malformation Type 1 Mayer-Rokitansky-Küster-Hauser Syndrome Isolated Ectopia Lentis Catecholaminergic Polymorphic Ventricular Tachycardia Hereditary Renal Aplasia Usher Syndrome 3A Autosomal Recessive Alport Syndrome Autosomal Dominant Alport Syndrome X-Linked Alport Syndrome Kallmann Syndrome Type 2 Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis ACys Amyloidosis Gorlin Psaume Syndrome Retinitis Pigmentosa 23 Primary Torsion Dystonia 6 Autosomal Dominant Autoimmune Lymphoproliferative Syndrome Type 1 Oculootoradial Syndrome WT Syndrome Revesz Syndrome Congenital Vitamin B12 Deficiency Congenital Dyserythropoietic Anemia Type 2 Oguchi Disease Developmental Dysplasia of the Hip Type 1 Nicolaides-Baraitser Syndrome Spondyloepimetaphyseal Dysplasia Type SPONASTRIME Thanatophoric Dysplasia Type 2 Ribose-5-Phosphate Isomerase Deficiency Aromatic L-Amino Acid Decarboxylase Deficiency Beta-Ureidopropionase Deficiency Iodide Peroxidase Deficiency Platelet-Type von Willebrand Disease X-Linked Severe Combined Immunodeficiency Epidermolysis Bullosa Pruriginosa KID Syndrome Glaucoma Related Pigment Dispersion Syndrome Congenital Thrombotic Thrombocytopenic Purpura Von Willebrand Disease Type 1 Congenital Muscular Dystrophy Type 1A Baraitser Syndrome Familial Hyperaldosteronism Type 1 Infantile Sialic Acid Storage Disease Frasier Syndrome Familial Infantile Myoclonic Epilepsy Hajdu Cheney Syndrome Deficiency of Ceruloplasmin Danon Disease Mitochondrial Neurogastrointestinal Encephalomyopathy Calcium Pyrophosphate Arthropathy