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Cerebro-Facio-Thoracic Dysplasia Klippel-Feil Syndrome Type 2 Charcot-Marie-Tooth Disease Type 4A Griscelli Syndrome Type 1 Rhizomelic Chondrodysplasia Punctata Type 1 Leontiasis Boucher-Neuhäuser Syndrome Long QT Syndrome 3 Multiple Endocrine Neoplasia Type 1 Autoimmune Lymphoproliferative Syndrome Type 2A Hyperphosphatemia HIV Infection Panhypopituitarism Inguinal Hernia Congenital Non-Goitrous Hypothyroidism Type 4 Hereditary Congenital Facial Paresis Type 2 Goiter Autosomal Dominant Spastic Paraplegia Type 10 Sleep Apnea Chudley-McCullough Syndrome Male Hypogonadism Gigantism Generalized Epilepsy with Febrile Seizures plus Type 3 Generalized Epilepsy with Febrile Seizures Plus Type 2 Heelspur Limb-Girdle Muscular Dystrophy Type 2E Blepharophimosis - Intellectual Disability Syndrome Type Verloes Autosomal Recessive Primary Microcephaly Type 2 Launois Syndrome Distal Spinal Muscular Atrophy Type 1 Autosomal Recessive Primary Microcephaly Type 4 Spinocerebellar Ataxia Type 12 Familial Febrile Seizures Type 4 Joint Effusion Autosomal Recessive Spastic Paraplegia Type 11 Familial Focal Epilepsy with Variable Foci Acromegalic Arthropathy Fatal Infantile Cytochrome C Oxidase Deficiency Chronic Hepatitis Nephronophthisis 3 Leber Congenital Amaurosis Type 4 Hepatitis Familial Isolated Arrhythmogenic Right Ventricular Dysplasia Pyogenic Arthritis Hepatic Vein Thrombosis Rectal Prolapse Necrosis of the Jaw Hereditary Motor and Sensory Neuropathy Type Okinawa Trichotillomania Charcot-Marie-Tooth Disease Type 4B2 Mercury Poisoning Immunodeficiency due to Defective Expression of HLA Class 1 Autosomal Recessive Congenital Ichthyosis Type 5 Dysidrosis Huntington Disease-Like 3 Pyoderma Autosomal Recessive Primary Microcephaly Type 3 Autosomal Dominant Spastic Paraplegia Type 12 Stickler Syndrome Type 2 Osteoarthritis with Mild Chondrodysplasia Bardet-Biedl Syndrome Type 6 Heart Block Acrodynia Suárez-Stickler Syndrome Granulosa Cell Tumor Gianotti-Crosti Syndrome Acrodermatitis Continua of Hallopeau Gonadal Dysgenesis Hypobetalipoproteinemia Familial 2 Zinc Deficiency Glioma Dactylitis Autosomal Dominant Spastic Paraplegia Type 29 Psoriasis Ulcerative Colitis Autosomal Recessive Deafness 44 MORM Syndrome Polyneuropathy Joubert Syndrome Type 5 Infantile Colic Senior-Løken Syndrome Type 6 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 10 3-Methylglutaconic Aciduria Type 5 Pontocerebellar Hypoplasia Type 5 Paronychia Infantile Neuroaxonal Dystrophy 1 Hereditary Angioedema Type 3 Marasmus COACH syndrome Cachexia Macular Coloboma - Cleft Palate - Hallux valgus Syndrome Secondary Optic Atrophy Achromatopsia Type 2 Fibroma Craniofacial Dyssynostosis Secondary Malnutrition Craniosytosis Mental Retardation Syndrome of Lin and Gettig Cutaneous Candidiasis Ventriculomegaly-Cystic Kidney Disease Estrogenic Agents