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Boli A-Z Acanthosis Nigricans Achalasia Achondroplasia Acrodermatitis Acute Leukemia Acute Lymphocytic Leukemia Acute Megakaryoblastic Leukemia in Down Syndrome Adenocarcinoma Adie Pupil Aging Alacrima, Achalasia, and Mental Retardation Syndrome Alopecia Alopecia Areata Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Alpha-Fetoprotein Deficiency Alport Syndrome, X-Linked Al-Raqad Syndrome Alzheimer Disease 3 Amyloidosis Anauxetic Dysplasia 1 Anca-Associated Vasculitis Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome, Mild Anencephaly Aneurysm Angelman Syndrome Aniridia 1 Anorexia Nervosa 1 Anterior Spinal Artery Syndrome Antiphospholipid Syndrome Aortic Coarctation Aplasia of Lacrimal and Salivary Glands Aplastic Anemia Apraxia Arthritis Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis, Renal Dysfunction, and Cholestasis 1 Arthropathy Astigmatism Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia Neuropathy Spectrum Ataxia-Telangiectasia Atlantoaxial Subluxation Atrioventricular Septal Defect Audiogenic Seizures Autism Autism Spectrum Disorder Autoimmune Enteropathy Autoimmune Polyendocrine Syndrome Autonomic Dysfunction Ayme-Gripp Syndrome Basal Ganglia Calcification Beta-Thalassemia Biliary Tract Disease Bipolar Disorder Bleeding Disorder, Platelet-Type, 11 Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 11 Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 4 Body Mass Index Quantitative Trait Locus 7 Body Mass Index Quantitative Trait Locus 8 Body Mass Index Quantitative Trait Locus 9 Bone Mineral Density Quantitative Trait Locus 15 Bone Mineral Density Quantitative Trait Locus 8 Bornholm Eye Disease Brainstem Auditory Evoked Responses Breast Cancer Bruxism Caffey Disease Calcinosis Cardiac Tamponade Cataract Catastrophic Antiphospholipid Syndrome Celiac Disease 1 Cerebellar Hypoplasia Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Palsy Cerebritis Cerebrovascular Disease Cervicitis Charge Syndrome Charles Bonnet Syndrome Childhood Leukemia Choanal Atresia, Posterior Cholelithiasis Cholestasis Cholesteatoma Choriocarcinoma Chromosomal Disease Chromosomal Triplication Chromosome 16 Trisomy Cluttering Cockayne Syndrome Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy Complete Atrioventricular Canal Congenital Hypothyroidism Congenital Nystagmus Congenital Portosystemic Shunt Congenital Toxoplasmosis Conjunctivitis Constipation Cornelia De Lange Syndrome Crouzon Syndrome Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome Dementia Dental Caries Dermatitis Diabetes Insipidus Diabetes Mellitus Diencephalic Syndrome Diffuse Alveolar Hemorrhage Dihydropyrimidinase Deficiency Duodenal Atresia Duodenal Obstruction Duodenitis Dyschromatosis Symmetrica Hereditaria Dysphagia Dysphasia, Familial Developmental Eclampsia Ectropion Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Hypermobility Type Eisenmenger Syndrome Elastosis Perforans Serpiginosa Embryonal Carcinoma Endotheliitis Enteropathica Ependymoma Epiblepharon Epidermolysis Bullosa Epiglottitis Epilepsy Epispadias Esotropia Euryblepharon Exostosis Fanconi Anemia, Complementation Group E Fetal Alcohol Spectrum Disorder Fetal Alcohol Syndrome Fibular Hypoplasia and Complex Brachydactyly Fragile X Syndrome Gait Apraxia Gallbladder Disease Gastroesophageal Reflux Genitourinary Tract Anomalies Germ Cells Tumors Gianotti Crosti Syndrome Gingivitis Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies Gonadal Dysgenesis Graves' Disease Hair Whorl Hashimoto Thyroiditis Head Injury Hematopoietic Stem Cell Transplantation Hemolytic Anemia Hemophilia Hemophilia B Hemosiderosis Hepatic Adenomas, Familial Hepatitis Hepatitis B Hepatitis C Hepatitis C Virus Hereditary Wilms' Tumor Hidradenitis Hidradenitis Suppurativa Hinman Syndrome Hirschsprung Disease 2 Holoprosencephaly Homocysteinemia Homocystinuria Hydrocele Hydrops Fetalis Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect Hyperostosis Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hyperthyroidism Hypertonia Hypertrophic Cardiomyopathy Hypertrophic Pyloric Stenosis Hypochondroplasia Hypotonia Hypotonia-Cystinuria Syndrome Ichthyosis Immune Defect Due to Absence of Thymus Immune Deficiency Disease Immunotactoid Glomerulopathy Infant Botulism Infertility Inflammatory Myofibroblastic Tumor Influenza Interatrial Communication Interstitial Nephritis Jacobsen Syndrome Jejunal Atresia Juvenile Myelomonocytic Leukemia Juvenile Rheumatoid Arthritis Klippel-Feil Syndrome Lactocele Lateral Sclerosis Leber Congenital Amaurosis Leukemia Lichen Nitidus Liposarcoma Lissencephaly 1 Liver Disease Lung Cancer Lymphoblastic Leukemia Macroglossia Marfan Syndrome Mast Cell Activation Syndrome Mediastinitis Medulloblastoma Megacolon Megakaryocytic Leukemia Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a Melanoma, Cutaneous Malignant 1 Melkersson-Rosenthal Syndrome Microcephaly Mixed Germ Cell Tumor Moebius Syndrome Monocytic Leukemia Monosomy 7 of Bone Marrow Mosaic Variegated Aneuploidy Syndrome 1 Moyamoya Disease 1 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism Multicystic Dysplastic Kidney Multiple Mitochondrial Dysfunctions Syndrome 5 Musical Perfect Pitch Mycetoma Myelofibrosis Myeloid Leukemia Myelomeningocele Myeloproliferative Syndrome, Transient Myoclonus Myoclonus Epilepsy Myopathy, Tubular Aggregate, 1 Myopia Myxopapillary Ependymoma Neonatal Leukemia Neonatal Stroke Nephrocalcinosis Neural Tube Defects Neural Tube Defects, Folate-Sensitive Neurodegeneration with Brain Iron Accumulation 2a Neurofibromatosis, Type Iv, of Riccardi Neurogenic Bladder Neuronitis Nodular Medulloblastoma Nondisjunction Nonseminomatous Germ Cell Tumor Omphalocele Orofaciodigital Syndrome Viii Osteoarthritis Osteoarthritis with Mild Chondrodysplasia Otitis Media Ovarian Cancer Pancreas, Annular Pancreatitis Patau Syndrome Patent Ductus Venosus Patent Foramen Ovale Pectus Carinatum Pericardial Effusion Periodontitis Persistent Idiopathic Facial Pain Pharyngitis Phelan-Mcdermid Syndrome Pick Disease of Brain Pityriasis Rubra Pilaris Placenta Disease Pneumonia Polyhydramnios Posterior Cortical Atrophy Posterior Urethral Valves Prader-Willi Syndrome Precocious Puberty Pre-Eclampsia Primary Congenital Glaucoma Progressive Myoclonus Epilepsy Protein C Deficiency Protein-Losing Enteropathy Prune Belly Syndrome Pseudohypoaldosteronism Psoriasis Psoriasis 13 Pulmonary Alveolar Microlithiasis Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 Pulmonary Hemosiderosis Pulmonary Hypertension Pulmonary Vein Stenosis Pyloric Stenosis Quadriplegia Rectal Duplication Refractive Error Refractory Anemia Renal Dysplasia, Cystic Retinal Degeneration Retinal Detachment Retinitis Retroperitoneal Liposarcoma Rett Syndrome Rheumatoid Arthritis Rickets Right Aortic Arch Ring Chromosome 15 Ring Chromosome 21 Roberts Syndrome Sacrococcygeal Teratoma Sagittal Sinus Thrombosis Scabies Schizophrenia Seizure Disorder Semilobar Holoprosencephaly Seminoma Senile Plaque Formation Severe Combined Immunodeficiency Sialolithiasis Silver-Russell Syndrome Sinusitis Sleep Apnea Sleep Disorder Slipped Capital Femoral Epiphysis Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Spastic Ataxia, Charlevoix-Saguenay Type Spasticity Spastic Quadriplegia Specific Language Impairment Spondyloocular Syndrome Startle Epilepsy Strabismus Stuttering Sveinsson Chorioretinal Atrophy Syndromic Intellectual Disability Syringoma Taurodontism Teratoma Testicular Cancer Testicular Germ Cell Tumor Testicular Germ Cell Tumor 1 Testicular Microlithiasis Tetanus Tetralogy of Fallot Tetrasomy 21 Thalassemia Thrombocytosis Thrombosis Thyroiditis Tooth Agenesis Toxoplasmoză Tracheal Stenosis Transposition of the Great Arteries Treacher Collins Syndrome 1 Triploidy Trisomy 1q Trisomy 22 Trochlear Dysplasia Turner Syndrome Twin-to-Twin Transfusion Syndrome Urethritis Vaginitis Vasculitis Velocardiofacial Syndrome Ventricular Fibrillation, Paroxysmal Familial, 1 Ventricular Septal Defect Werner Syndrome West Syndrome Williams-Beuren Syndrome Wilms Tumor 6