Disease name:
22q13 Deletion Syndrome 4-hydroxybutyric aciduria A1 - ANTITRYPSIN DEFICIENCY Aceruloplasminemia ACHONDROGENESIS Achondroplasia ACYL-CoA Dehydrogenase deficiency, long chain Acyl-CoA dehydrogenase deficiency, short chain Adenomatous Polyposis, Familial Adrenoleukodystrophy Agammaglobulinemia Aicardi-Goutieres syndrome Alcoholic liver disease Alkaptonuria Allergy Alport Syndrome Alzheimer disease AMME Complex Amyloidosis Amyotrophic Lateral Sclerosis AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE Anemia, dyserythropoietic congenital Anemia, microcytic Angelman Syndrome Angioedema, hereditary Anhidrotic Ectodermal Dysplasia with Immune Deficiency ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Ankylosing Spondylitis Anxiety disorders Apparent mineralocorticoid excess Arrhythmogenic Right Ventricular Cardiomyopathy Arterial Thrombosis, Juvenile ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY Asthenozoospermia, genetic Asthma Ataxia Telangiectasia Ataxia, Cerebellar Ataxia, early-onset, with Oculomotor Apraxia and Hypoalbuminemia Ataxia, Episodic, type 1 Ataxia, Friedreich Ataxia, Spinocerebellar ATAXIA, SPINOCEREBELLAR 28 ATELOSTEOGENESIS, TYPE II Atherosclerosis Attention Deficit with Hyperactivity Disorder Autism Autoimmune lymphoproliferative syndrome Autoimmune neuropathy AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I AUTOSOMAL PRIMARY OPEN-ANGLE GLAUCOMA Azoospermia, idiopathic Bannayan-Riley-Ruvalcaba syndrome Bare lymphocyte syndrome BARE LYMPHOCYTE SYNDROME, TYPE II Bartter Syndrome Basic studies Basic studies, bone Basic studies, eye Basic studies, gene therapy Basic studies, genetic diseases in general Basic studies, immunology Basic studies, neurological Basic studies, neuromuscular Beckwith-Wiedemann Syndrome Bipolar disorders Blepharophimosis, Ptosis and Epicanthus Inversus Brugada Syndrome, type 1 Brugada Syndrome, type 2 Brugada Syndrome, type 3 CARDIOFACIOCUTANEOUS SYNDROME Cardiomyopathies Cardiomyopathy, Dilated 1A Carnitine acetyltransferase deficiency Carnitine Palmitoyltransferase Deficiency Carnitine-Acylcarnitine Translocase Deficiency Catecholaminergic Polymorphic Ventricular Tachycardia Celiac Disease Cerebellar Hypoplasia CEREBRAL CAVERNOUS MALFORMATIONS CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY Cerebrotendinous Xanthomatosis Charcot-Marie-Tooth Disease Charcot-Marie-Tooth, TYPE 1A Charcot-Marie-Tooth, type 1B CHARCOT-MARIE-TOOTH, TYPE 2B CHARCOT-MARIE-TOOTH, TYPE 4B1 Charcot-Marie-Tooth, type 4E Charcot-Marie-Tooth, type 4F; HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Chiari malformation, type II CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC CHONDRODYSPLASIA PUNCTATA, X-linked CHONDRODYSPLASIAS CHOREA-ACANTHOCYTOSIS Chronic granulomatous disease Cockayne syndrome Coffin-Lowry syndrome Coloboma Common variable immunodeficiency Congenital Hepatic Fibrosis Congenital Insensitivity to Pain with Anhidrosis CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER Corneal Dystrophy, gelatinous drop-like Cornelia De Lange Syndrome Coronary Heart Disease Creatine deficiency syndromes CREUTZFELDT-JAKOB DISEASE Cri-du-Chat syndrome Crigler-Najjar syndrome Cryopyrin-associated periodic syndrome CURRARINO SYNDROME Cystic Fibrosis Cystinuria Dandy-Walker syndrome Deafness, hereditary Dehydrated Hereditary Stomatocytosis Demyelinating Neuropathies, Hereditary Dent disease, type 1 Dentatorubral-pallidoluysian Atrophy Dermatomyositis Desbuquois syndrome DESMOSTEROLOSIS Diabetes insipidus, nephrogenic, X-linked Diabetes, Maturity-Onset of the Young (MODY) Diabetes, type 1 Diabetes, type 2 Dialysis-Related Amyloidosis Diamond-Blackfan Anemia Diaphragmatic Hernia, Congenital Diastrophic Dysplasia DiGeorge Syndrome Down Syndrome Duane retraction syndrome Duchenne muscular dystrophy Ductal plate malformation Duplication of chromosome 8 short arm Dyskeratosis congenita, X-linked Dystonia Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 Ehlers-Danlos syndrome Emery-Dreifuss Muscular Dystrophy Epidermolysis bullosa Epilepsy Epilepsy, Benign familial neonatal convultions EPILEPSY, IDIOPATHIC GENERALIZED Epilepsy, Lateral temporal lobe Epilepsy, nocturnal front lobe EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 EXUDATIVE VITREORETINOPATHY, type 1 Fabry Disease FACIOGENITAL DYSPLASIA Facioscapulohumeral Muscular Dystrophy FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, 1A FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF Factor VII deficiency Familial Amyloid Polyneuropathy Familial dysautonomia Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) Fanconi Anemia FATAL FAMILIAL INSOMNIA Fechtner Syndrome FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Fragile X syndrome FRONTOTEMPORAL DEMENTIA Gangliosidosis Genetic diseases in general GERSTMANN-STRAUSSLER DISEASE GILLES DE LA TOURETTE SYNDROME Glaucoma, Hereditary Glomerulosclerosis Glucose-6-phosphate Dehydrogenase Deficiency GLYCOGEN STORAGE DISEASE, type II Glycogen storage disease, type I Glycogen Storage Disease, Type III Glycogen storage disease, type IV Glycogen storage disease, type V Gonadal dysgenesis, XY type Griscelli syndrome Guillain-Barre Syndrome Hashimoto Thyroiditis HEART FAILURE Hemihypertrophy Hemiplegic Migraine, Familial Hemochromatosis, hereditary Hemolytic Uremic Syndrome Hemophagocytic Lymphohistiocytosis, Familial Hemophilia Hemorrhagic Telangiectasia, Hereditary HERPES STROMAL KERATITIS Heterotaxy Heterotopia, Familial Nodular Hirschsprung disease Holt-Oram syndrome Huntington Disease HUTCHINSON-GILFORD PROGERIA SYNDROME Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Hypercalciuria Hypercholesterolemia, familial Hyperferritinemia-Cataract Syndrome Hyperhomocysteinemia Hyperkalemic Periodic Paralysis Hyperlipidemia, Combined Familial HYPEROXALURIA, PRIMARY Hypertension Hypertrophic Cardiomyopathy, familial HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE HYPOBETALIPOPROTEINEMIA, familial Hypokalemic Periodic Paralysis Hypothyroidism, hereditary Hypotrichosis-Lymphedema-Telangiectasia syndrome ICHTHYOSIS, LAMELLAR IgA nefropathy Immunodeficiencies, primitive Immunodeficiency with hyper-Ig-M IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED Immunoglobulin G4 deficiency INCLUSION BODY MYOSITIS Incontinentia Pigmenti INFANTILE SPASM SYNDROME, X-LINKED INSULIN RECEPTOR, DEFECT IN Intensive Care Unit Acute Myopathy Jervell and Lange-Nielsen Syndrome JOUBERT SYNDROME Kallmann Syndrome Keratosis follicularis spinulosa decalvans Keratosis Palmoplantaris Striata Klippel-Trenaunay-Weber syndrome Krabbe Disease Lambert-Eaton Myasthenic Syndrome Leber Congenital Amaurosis Type IV LEBER CONGENITAL AMAUROSIS, TYPE II Leber optic atrophy Lecithin-Cholesterol Acyltransferase Deficiency Left ventricular outflow tract obstruction Leigh Syndrome LEOPARD SYNDROME 1 Leukocyte Adhesion Deficiency LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT Limb-Girdle Muscular Dystrophy Limb-Girdle Muscular Dystrophy, TYPE 2H Lipid Storage Myopathies LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Lissencephaly Long QT Syndrome Long QT Syndrome, type 3 LOWE OCULOCEREBRORENAL SYNDROME Lymphoproliferative syndrome, X-linked Lysinuric Protein Intolerance Lysosomal Storage Diseases, in general MACHADO-JOSEPH DISEASE MACULAR DEGENERATION, AGE-RELATED, 1 Malignant Hyperthermia MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY Marfan syndrome MASA syndrome May-Hegglin Anomaly McCune-Albright Syndrome McLeod Syndrome Medullary Cystic Kidney Disease, type 2 MEGACOLON, AUTOSOMAL DOMINANT MELAS Syndrome MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED Menkes Disease Mental retardation, X-linked MERRF syndrome Metachromatic Leukodystrophy METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE Methylmalonic Aciduria Mevalonic aciduria MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN Mitochondrial Cardiomyopathies MITOCHONDRIAL COMPLEX IV DEFICIENCY Mitochondrial diseases, not elsewhere classified MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Mitochondrial Encephalomyopathies MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME Mitochondrial, Coenzyme Q10 deficiency MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Motor neuron diseases Mucolipidosis, type IV Mucopolysaccharidosis, type I Mucopolysaccharidosis, type II Mucopolysaccharidosis, type III Mucopolysaccharidosis, type VI Multifocal Motor Neuropathy Multiple Autoimmune Syndrome Multiple Sulfatase Deficiency Muscular dystrophies, not elsewhere classified MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT MUSCULAR DYSTROPHY, OCULOPHARYNGEAL Myasthenia Gravis Myasthenic Syndrome, Congenital MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG Myoclonic Epilepsy, Juvenile Myoclonic Epilepsy, Progressive Myopathies, congenital Myopathy, acute quadriplegic Myopathy, Bethlem Myopathy, Brody Myopathy, central core disease Myopathy, congenital centronuclear Myopathy, Nemaline Myopathy, Tubular Aggregate Myositis MYOTONIA CONGENITA, AUTOSOMAL DOMINANT MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE MYOTONIA, POTASSIUM-AGGRAVATED Myotonic dystrophy 1 Myotonic syndromes Nail-Patella Syndrome Nephronophthisis, type 1 Nephropathic Cystinosis Nephrotic syndrome, steroid resistant (SRNS) Neural tube defects NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, type 3 Neurodegenerative diseases Neurofibromatosis Neurological diseases in general Neuromuscular diseases in general Neuronal intestinal dysplasia Neuropathy with Liability to Pressure Palsies, Hereditary Neuropathy, ataxia and retinitis pigmentosa NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V NIEMANN-PICK DISEASE Nijmegen Breakage Syndrome Noonan syndrome NORRIE DISEASE NOT ALLOCABLE COSTS Notalgia paresthetica Obesity Ocular albinism Ocular Albinism with Late-Onset Sensorineural Deafness Ocular myopathies OCULOCUTANEOUS ALBINISM Oligozoospermia OMENN SYNDROME Opitz syndrome Optic atrophy, type I OROFACIAL CLEFT OROFACIODIGITAL SYNDROME I Osteogenesis Imperfecta Osteopetrosis OSTEOPETROSIS, AUTOSOMAL RECESSIVE, type 2 OSTEOPETROSIS, AUTOSOMAL RECESSIVE, type 1 Otosclerosis Paget disease of bone PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC Pantothenate kinase-associated neurodegeneration (PKAN) Paramyotonia Congenita Parkinson disease Parkinson's Disease, Familial PARTINGTON SYNDROME PEELING SKIN SYNDROME, ACRAL TYPE Pelviscapular dysplasia PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT Periodic Paralysis PERSISTENCE OF FETAL HEMOGLOBIN, HEREDITARY Phenylketonuria PHOSPHOGLYCERATE MUTASE DEFICIENCY PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES Polyalanine diseases Polycystic Kidney Disease POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE Polyglutamine diseases Polymyositis Porphyrias Prader-Willi syndrome PREECLAMPSIA PREMATURE OVARIAN FAILURE PRESENILE DEMENTIA WITH BONE CYSTS Prion Encephalopathies Progressive External Ophthalmoplegia Pseudoxanthoma Elasticum Psoriasis Pyloric stenosis, infantile RENAL HYPODYSPLASIA, NONSYNDROMIC, type 1 Retinitis pigmentosa Rett syndrome Rett syndrome, early onset seizures type (CDKL5) Rieger syndrome Roberts Syndrome Rubinstein-Taybi Schizophrenia Scleroderma Sebastian syndrome Severe Combined Immunodeficiency SHWACHMAN-DIAMOND SYNDROME Sickle cell anemia SILVER-RUSSELL SYNDROME Simpson-Golabi-Behmel Syndrome, type 1 Sjogren-Larsson Syndrome Smith-Magenis Syndrome SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT, type 12 SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, type 29 SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, type 38 Spastic paraplegia, hereditary Spastic Paraplegia, type 4 Spinal and bulbar muscular atrophy Spinal Muscular Atrophy SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS, 1 SPLIT-Hand/Foot malformation Spondyloepiphyseal Dysplasia Tarda STARGARDT DISEASE 1 Sterility Stroke SUPERNUMERARY MARKER CHROMOSOMES SUPRAVALVULAR AORTIC STENOSIS SYNDACTYLY, TYPE 2 Systemic Lupus Erythematosus TANGIER DISEASE Tay-Sachs disease Thalassemia Thalassemia, beta THROMBASTHENIA OF GLANZMANN AND NAEGELI THROMBOCYTOPENIA, type 2 Thrombocytopenia-Absent Radius Syndrome Thrombophilia Thrombotic Thrombocytopenic Purpura THYROID DYSGENESIS TORSION DYSTONIA, type 1 Tremor, Hereditary Essential TRICHODENTOOSSEOUS SYNDROME Trichothiodystrophy Tuberous sclerosis Ullrich Congenital Muscular Dystrophy Ulnar mammary syndrome Velocardiofacial Syndrome Vesicoureteral reflux Von Willebrand Disease Werner syndrome WHIM SYNDROME White matter disorder, autosomal recessive White sponge nevus Williams syndrome Wilson disease Wiskott-Aldrich Syndrome WOLF-HIRSCHHORN SYNDROME Xeroderma Pigmentosum Y chromosome syndromes
