Secondary Rare Disease Diagnosis: Select secondary disease if known
Please select one disease Undiagnosed Not in List Aarskog Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome Acanthocheilonemiasis Acanthosis Nigricans Aceruloplasminemia Achalasia Achard Thiers Syndrome Achondrogenesis Achondroplasia Acid Sphingomyelinase Deficiency Acidemia Isovaleric Acidemia, Methylmalonic Acoustic Neuroma Acquired Aplastic Anemia Acquired Hemophilia Acquired Lipodystrophy Acquired Neuromyotonia Acrocallosal Syndrome, Schinzel Type Acrodermatitis Enteropathica Acrodysostosis Acromegaly Acromesomelic Dysplasia Acromicric Dysplasia ACTH Deficiency Acute Disseminated Encephalomyelitis Acute Eosinophilic Pneumonia Acute Intermittent Porphyria Acute Myeloid Leukemia Acute Respiratory Distress Syndrome Adams Oliver Syndrome Addison’s Disease Adenoid Cystic Carcinoma Adenylosuccinate Lyase Deficiency Adie Syndrome Adrenoleukodystrophy Adult Neuronal Ceroid Lipofuscinosis Adult Onset Still’s Disease Adult Polyglucosan Body Disease AEC Syndrome Afibrinogenemia, Congenital African Iron Overload Agammaglobulinemia Agenesis of Corpus Callosum Agranulocytosis, Acquired Ahumada-Del Castillo Syndrome Aicardi Syndrome AIDS Dysmorphic Syndrome ALAD Porphyria Alagille Syndrome Alexander Disease Alkaptonuria Alopecia Areata Alpers Disease Alpha Thalassemia Alpha Thalassemia X-linked Intellectual Disability Syndrome Alpha-1 Antitrypsin Deficiency Alpha-Mannosidosis Alport Syndrome Alström Syndrome Alternating Hemiplegia of Childhood Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Alveolar Soft Part Sarcoma Alveolitis, Extrinsic Allergic Alzheimer’s Disease Ameloblastic Carcinoma Ameloblastoma Amelogenesis Imperfecta Amniotic Band Syndrome Amyloidosis Amyotrophic Lateral Sclerosis Anaplastic Astrocytoma Andersen Disease (GSD IV) Andersen-Tawil Syndrome Androgen Insensitivity Syndrome, Partial Anemia of Chronic Disease Anemia, Blackfan Diamond Anemia, Hemolytic, Acquired Autoimmune Anemia, Hemolytic, Cold Antibody Anemia, Hereditary Nonspherocytic Hemolytic Anemia, Hereditary Spherocytic Hemolytic Anemia, Megaloblastic Anemia, Pernicious Anemias, Sideroblastic Anencephaly Angelman Syndrome Angioimmunoblastic T-Cell Lymphoma Aniridia Aniridia Cerebellar Ataxia Mental Deficiency Anodontia Anthrax Antiphospholipid Syndrome Antithrombin Deficiency Antley Bixler Syndrome Apert Syndrome Aplasia Cutis Congenita Apnea, Infantile Apraxia Arachnoid Cysts Arachnoiditis Arginase Deficiency Argininosuccinic Aciduria Arterial Tortuosity Syndrome Arteriovenous Malformation Arteritis, Takayasu Arthritis, Infectious Arthritis, Juvenile Rheumatoid Arthritis, Psoriatic Arthrogryposis Multiplex Congenita Asherman’s Syndrome Asherson’s Syndrome Aspartylglycosaminuria Aspergillosis Asphyxiating Thoracic Dystrophy Astrocytoma Ataxia Telangiectasia Ataxia with Vitamin E Deficiency ATR-16 Syndrome Atransferrinemia Atrial Septal Defects Atrioventricular Septal Defect Atypical Hemolytic Uremic Syndrome Autoimmune Blistering Diseases Autoimmune Hepatitis Autoimmune Polyendocrine Syndrome Type II Autoimmune Polyglandular Syndrome Type 1 Autosomal Dominant Hereditary Ataxia Autosomal Dominant Hyper IgE Syndrome Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Porencephaly Type I Autosomal Dominant Tubulo-Interstitial Kidney Disease Autosomal Recessive Hyper IgE Syndrome Autosomal Recessive Polycystic Kidney Disease Babesiosis Balantidiasis Baller Gerold Syndrome Balo Disease Banti’s Syndrome Barakat Syndrome Bardet-Biedl Syndrome Barth Syndrome Bartonellosis Bartter’s Syndrome Beckwith-Wiedemann Syndrome Behçet’s Syndrome Bejel Bell’s Palsy Benign Essential Blepharospasm Benign Paroxysmal Positional Vertigo Bernard-Soulier Syndrome Berylliosis Best Vitelliform Macular Dystrophy Beta Thalassemia Bile Acid Synthesis Disorders Biliary Atresia Binder Type Nasomaxillary Dysplasia Binswanger Disease Biotinidase deficiency Birt-Hogg-Dubé Syndrome Björnstad Syndrome Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Blastomycosis Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Bloom Syndrome Blue Diaper Syndrome Blue Rubber Bleb Nevus syndrome Börjeson-Forssman-Lehman Syndrome Bosma Arhinia Microphthalmia Syndrome Botulism Bowen Disease Bowen Hutterite Syndrome Bowenoid Papulosis Branchio Oculo Facial Syndrome Branchio Oto Renal Syndrome Bronchiolitis Obliterans Organizing Pneumonia Bronchopulmonary Dysplasia (BPD) Brown Séquard Syndrome Brown Syndrome Brucellosis Brugada Syndrome Budd Chiari Syndrome Buerger’s Disease Bullous Pemphigoid C Syndrome C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis CADASIL Campomelic Syndrome Camurati-Engelmann Disease Canavan Disease Candidiasis CARASIL Carbamoyl Phosphate Synthetase I Deficiency Carcinoid Syndrome CARD9 Deficiency Cardiofaciocutaneous Syndrome Carney Complex Carnitine Palmitoyltransferase 1A Deficiency Carnosinemia Caroli Disease Carpenter Syndrome Castleman Disease Cat Eye Syndrome Catamenial Pneumothorax Catel Manzke Syndrome Caudal Regression Syndrome Cavernous Malformation CDKL5 Central Core Disease Central Diabetes Insipidus Central Pain Syndrome Centronuclear Myopathy Cerebellar Agenesis Cerebellar Degeneration, Subacute Cerebral Palsy Cerebro Oculo Facio Skeletal Syndrome Cerebrocostomandibular Syndrome Cerebrotendinous Xanthomatosis Cervical Dystonia Cervical Teratoma Chandler’s Syndrome Charcot-Marie-Tooth Disease CHARGE Syndrome Chediak Higashi Syndrome Chiari Frommel Syndrome Chiari Malformations Chikungunya Chilaiditi’s Syndrome Cholangiocarcinoma Cholecystitis Cholera Cholesteryl Ester Storage Disease Chondrocalcinosis, Familial Articular Chordoma Choroideremia Choroiditis, Serpiginous Chromosome 10, Distal Trisomy 10q Chromosome 10, Monosomy 10p Chromosome 11, Partial Monosomy 11q Chromosome 11, Partial Trisomy 11q Chromosome 13, Partial Monosomy 13q Chromosome 14 Ring Chromosome 14, Trisomy Mosaic Chromosome 15 Ring Chromosome 15, Distal Trisomy 15q Chromosome 18 Ring Chromosome 18, Monosomy 18p Chromosome 18, Tetrasomy 18p Chromosome 18q- Syndrome Chromosome 20 ring Chromosome 21 Ring Chromosome 22 Ring Chromosome 22, Trisomy Mosaic Chromosome 22q11.2 Deletion Syndrome Chromosome 3, Monosomy 3p Chromosome 3, Trisomy 3q2 Chromosome 4, Monosomy 4q Chromosome 4, Monosomy Distal 4q Chromosome 4, Partial Trisomy Distal 4q Chromosome 4, Trisomy 4p Chromosome 5, Trisomy 5p Chromosome 6 Ring Chromosome 6, Partial Trisomy 6q Chromosome 7, Partial Monosomy 7p Chromosome 8, Monosomy 8p Chromosome 9 Ring Chromosome 9, Partial Monosomy 9p Chromosome 9, Tetrasomy 9p Chromosome 9, Trisomy 9p (Multiple Variants) Chromosome 9, Trisomy Mosaic Chronic Eosinophilic Pneumonia Chronic Granulomatous Disease Chronic Inflammatory Demyelinating Polyneuropathy Chronic Intestinal Pseudo-obstruction Chronic Lymphocytic Leukemia Chronic Myelogenous Leukemia Churg Strauss Syndrome Cicatricial Alopecia Ciguatera Fish Poisoning Citrullinemia Type 1 Classic Hereditary Hemochromatosis Classic Infantile CLN1 Disease Cleidocranial Dysplasia CLOVES Syndrome Cluster Headache Coats Disease Cockayne Syndrome Coffin Lowry Syndrome Coffin Siris Syndrome Cogan Reese Syndrome Cohen Syndrome Collagen Type VI-Related Disorders Colorado Tick Fever Common Variable Immune Deficiency Cone Dystrophy Congenital Adrenal Hyperplasia Congenital Bilateral Perisylvian Syndrome Congenital Central Hypoventilation Syndrome Congenital Contractural Arachnodactyly Congenital Disorders of Glycosylation Congenital Erythropoietic Porphyria Congenital Fiber Type Disproportion Congenital Fibrosis of the Extraocular Muscles Congenital Generalized Lipodystrophy Congenital Hepatic Fibrosis Congenital Hyperinsulinism Congenital Lactic Acidosis Congenital Muscular Dystrophy Congenital Myasthenic Syndromes Congenital Plasminogen Deficiency Congenital Pulmonary Lymphangiectasia Congenital Syphilis Congenital Varicella Syndrome Conradi Hünermann Syndrome Conversion Disorder Cor Triatriatum Corneal Dystrophies Cornelia de Lange Syndrome Corticobasal Degeneration Costello Syndrome Craniofrontonasal Dysplasia Craniometaphyseal Dysplasia Creutzfeldt Jakob Disease Cri du Chat Syndrome Crigler Najjar Syndrome CRMO (chronic recurrent multifocal osteomyelitis) Cronkhite-Canada Syndrome Crouzon Syndrome Cryptococcosis Cushing Syndrome Cutaneous T-Cell Lymphomas Cutaneous Vasculitis Cutis Laxa Cutis Marmorata Telangiectatica Congenita Cyclic Neutropenia Cyclic Vomiting Syndrome Cystic Fibrosis Cysticercosis Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Cytomegalovirus Infection Dandy Walker Malformation Danon Disease De Barsy Syndrome De Santis Cacchione Syndrome Degos Disease Dejerine Sottas Disease Dengue Fever Dent Disease Dentin Dysplasia Type I Dentin Dysplasia Type II Dentinogenesis Imperfecta Type III Denys-Drash Syndrome Depersonalization Disorder Dercum’s Disease Dermatitis Herpetiformis Dermatomyositis Desmoid Tumor Dextrocardia with Situs Inversus Diastrophic Dysplasia Diencephalic Syndrome Diffuse Pulmonary Lymphangiomatosis Dilatation of the Pulmonary Artery, Idiopathic Disaccharide Intolerance I Distal Myopathy DLG4 Dominant Multiple Epiphyseal Dysplasia DOOR Syndrome Dracunculosis Dravet Syndrome Spectrum Duane syndrome Dubin Johnson Syndrome Dubowitz Syndrome Duchenne Muscular Dystrophy Duodenal Atresia or Stenosis Dupuytren’s Contracture Dyggve Melchior Clausen syndrome Dysautonomia, Familial Dyskeratosis Congenita Dysplasia Epiphysealis Hemimelica Dystonia Eales Disease Ear, Patella, Short Stature Syndrome Ectodermal Dysplasias Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Ehlers Danlos Syndromes Eisenmenger Syndrome Elephantiasis Ellis Van Creveld Syndrome Emery Dreifuss Muscular Dystrophy Emphysema, Congenital Lobar Empty Sella Syndrome Encephalitis, Herpes Simplex Encephalitis, Japanese Encephalocele Endocardial Fibroelastosis Endocarditis, Infective Endomyocardial Fibrosis Enterobiasis Eosinophilia-Myalgia Syndrome Eosinophilic Esophagitis Eosinophilic Fasciitis Eosinophilic Gastroenteritis Epidermal Nevus Syndromes Epidermolysis Bullosa Epidermolytic Ichthyosis Epilepsy Epitheliopathy, Acute Posterior Multifocal Placoid Pigment Erdheim Chester disease Erysipelas Erythema Multiforme Erythrokeratodermia with Ataxia Erythromelalgia Erythropoietic Protoporphyria Esophageal Atresia and/or Tracheoesophageal Fistula Essential Iris Atrophy Essential Thrombocythemia Essential Tremor Evans Syndrome Ewing Sarcoma Fabry Disease Facioscapulohumeral Muscular Dystrophy Factor VII Deficiency Factor XI Deficiency Factor XII Deficiency Factor XIII Deficiency Familial Adenomatous Polyposis Familial Cold Autoinflammatory Syndrome Familial Encephalopathy with Neuroserpin Inclusion Bodies Familial Eosinophilic Cellulitis Familial Hypercholesterolemia Familial Hypophosphatemia Familial Isolated Hypoparathyroidism Familial Lipoprotein Lipase Deficiency Familial Mediterranean Fever Familial Partial Lipodystrophy Fanconi Anemia Farber’s Disease Fascioliasis Febrile Infection-Related Epilepsy Syndrome (FIRES) Felty Syndrome Femoral Facial Syndrome Ferroportin Disease Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fetal Retinoid Syndrome Fetal Valproate Syndrome FG Syndrome Type 1 Fibrodysplasia Ossificans Progressiva Fibromuscular Dysplasia Fibrosing Mediastinitis Fibrous Dysplasia Filariasis Filippi Syndrome Fitz Hugh Curtis Syndrome Floating Harbor Syndrome Focal Dermal Hypoplasia Food Protein-Induced Enterocolitis Syndrome Formaldehyde Poisoning Fountain Syndrome Fournier Gangrene Fox Fordyce Disease Fragile X Syndrome Fraser Syndrome Freeman Sheldon Syndrome Frey Syndrome Friedreich’s Ataxia Froelich’s Syndrome Frontofacionasal Dysplasia Frontonasal Dysplasia Frontotemporal Degeneration Fructose Intolerance, Hereditary Fryns Syndrome Fucosidosis Fukuyama Type Congenital Muscular Dystrophy Functional Neurological Disorder Galactosemia Galloway-Mowat Syndrome Gastritis, Chronic, Erosive Gastritis, Giant Hypertrophic Gastrointestinal Stromal Tumors Gastroparesis Gastroschisis Gaucher Disease General Myoclonus Geographic Tongue Gerstmann Syndrome Gianotti Crosti Syndrome Giant Axonal Neuropathy Giant Cell Arteritis Giant Cell Myocarditis Giant Congenital Melanocytic Nevus Gilbert Syndrome Gitelman Syndrome Glanzmann Thrombasthenia Glioblastoma Multiforme Glucose Transporter Type 1 Deficiency Syndrome Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-Galactose Malabsorption Glutaricaciduria I Glutaricaciduria II Glutathione Synthetase Deficiency Glycogen Storage Disease Type I Glycogen Storage Disease Type III Glycogen Storage Disease Type IX Glycogen Storage Disease Type V Glycogen Storage Disease Type VII Goodpasture Syndrome Gordon Syndrome Gorham-Stout Disease Gorlin-Chaudhry-Moss Syndrome Gottron Syndrome Graft versus Host Disease Granuloma Annulare Granulomatosis with Polyangiitis Graves’ Disease Greig Cephalopolysyndactyly Syndrome GRI Grover’s Disease Growth Hormone Deficiency Growth Hormone Insensitivity Guillain-Barré Syndrome Hailey-Hailey Disease Haim-Munk Syndrome Hairy Cell Leukemia Hajdu Cheney Syndrome Hallermann Streiff Syndrome Hanhart Syndrome Hantavirus Pulmonary Syndrome Hartnup Disease Heart Block, Congenital Heavy Metal Poisoning Hemimegalencephaly Hemophilia A Hemophilia B Henoch-Schönlein Purpura Hepatic Encephalopathy Hepatocellular Carcinoma Hepatoerythropoietic Porphyria Hepatorenal Syndrome Hereditary Angioedema Hereditary Coproporphyria Hereditary Hemorrhagic Telangiectasia Hereditary Hyperphosphatasia Hereditary Leiomyomatosis and Renal Cell Carcinoma Hereditary Lymphedema Hereditary Multiple Osteochondromas Hereditary Neuralgic Amyotrophy Hereditary Sensory and Autonomic Neuropathy Type 1E Hereditary Sensory and Autonomic Neuropathy Type II Hereditary Sensory and Autonomic Neuropathy Type IV Hereditary Sensory Neuropathy Type I Hereditary Spastic Paraplegia Hermansky Pudlak syndrome Herpes, Neonatal Hers Disease Hiccups, Chronic Hidradenitis Suppurativa Hirschsprung Disease Histidinemia Hodgkin’s Disease Holoprosencephaly Holt Oram Syndrome Homocystinuria due to Cystathionine Beta-Synthase Deficiency Horner’s Syndrome HTLV Type I and Type II Human Granulocytic Ehrlichiosis (HGE) Human HOXA1 Syndromes Human Monocytic Ehrlichiosis (HME) Huntington’s Disease Hutchinson-Gilford Progeria Hydranencephaly Hydrocephalus Hyper IgM Syndrome Hyperekplexia Hyperemesis Gravidarum Hyperferritinemia Cataract Syndrome Hyperhidrosis, Primary Hyperlipoproteinemia Type III Hyperostosis Frontalis Interna Hyperprolinemia Type I Hyperprolinemia Type II Hypochondroplasia Hypohidrotic Ectodermal Dysplasia Hypokalemia Hypomelanosis of Ito Hypoparathyroidism Hypophosphatasia Hypoplastic Left Heart Syndrome Hypothalamic Hamartoma I Cell Disease Ichthyosis Ichthyosis Hystrix, Curth Macklin Type Ichthyosis Vulgaris Ichthyosis, Chanarin Dorfman Syndrome Ichthyosis, CHILD Syndrome Ichthyosis, Erythrokeratodermia Variabilis Ichthyosis, Erythrokeratolysis Hiemalis Ichthyosis, Harlequin Type Ichthyosis, Keratosis Follicularis Spinulosa Decalvans Ichthyosis, Lamellar Ichthyosis, Netherton Syndrome Ichthyosis, Trichothiodystrophy Ichthyosis, X Linked Idiopathic Intracranial Hypertension Idiopathic Neonatal Hepatitis Idiopathic Pulmonary Fibrosis Idiopathic Subglottic Stenosis IgA Nephropathy Immune Thrombocytopenia Imperforate Anus Incontinentia Pigmenti Infantile Myofibromatosis Infantile Neuroaxonal Dystrophy Intestinal Malrotation IRF6-Related Disorders Ivemark Syndrome Jackson-Weiss Syndrome Jansen Type Metaphyseal Chondrodysplasia Jejunal Atresia Jervell and Lange-Nielsen Syndrome Johanson-Blizzard Syndrome Joubert Syndrome Juberg-Marsidi Syndrome Jumping Frenchmen of Maine Juvenile CLN3 Disease Juvenile Hemochromatosis Juvenile Myelomonocytic Leukemia Juvenile Pilocytic Astrocytoma Kabuki Syndrome Kallmann Syndrome Kasabach-Merritt phenomenon Kawasaki Disease KBG Syndrome KCNK9 Imprinting Syndrome KCNQ2 Encephalopathy Kearns Sayre Syndrome Kennedy Disease Kenny-Caffey Syndrome Keratitis Ichthyosis Deafness Syndrome Keratoconus Keratomalacia Keratosis Follicularis Keratosis, Seborrheic Kernicterus Kienböck Disease Kikuchi’s Disease Kleine-Levin Syndrome Klinefelter Syndrome Klippel-Feil Syndrome Klippel-Trénaunay Syndrome Klüver-Bucy Syndrome Kniest Dysplasia Köhler Disease Kugelberg Welander Syndrome L1 Syndrome Laband Syndrome LADD syndrome Lambert-Eaton Myasthenic Syndrome Landau Kleffner Syndrome Langerhans Cell Histiocytosis Larsen Syndrome Laryngeal Dystonia Laryngomalacia Leber Congenital Amaurosis Leber Hereditary Optic Neuropathy Legg Calvé Perthes Disease Legionnaires’ Disease Leigh Syndrome Leiomyosarcoma Leiomyosarcoma, Inferior Vena Cava Leishmaniasis Lennox-Gastaut Syndrome Lenz Microphthalmia Syndrome LEOPARD Syndrome Leprechaunism Leprosy Leptospirosis Leri Pleonosteosis Leri-Weill Dyschondrosteosis Lesch Nyhan Syndrome Leukocyte Adhesion Deficiency Syndromes Leukodystrophy Leukodystrophy, Krabbe’s Levy-Yeboa Syndrome Li-Fraumeni Syndrome Lichen Planus Lichen Sclerosus Limb-Girdle Muscular Dystrophies Lissencephaly Listeriosis Locked In Syndrome Long QT Syndrome Low Gamma-GT Familial Intrahepatic Cholestasis Lowe syndrome Lymphangioleiomyomatosis Lymphatic Malformations Lymphedema-Distichiasis Syndrome Lymphocytic Infiltrate of Jessner Lymphomatoid Granulomatosis Lysosomal Free Sialic Acid Storage Disorders Lysosomal Storage Disorders Machado-Joseph Disease Macroglossia Macular Degeneration Madelung’s Disease Maffucci Syndrome Mal de Debarquement Malan Syndrome Malaria Malignant Hyperthermia Mallory Weiss Syndrome Mandibuloacral Dysplasia Mantle Cell Lymphoma Maple Syrup Urine Disease Marcus Gunn Phenomenon Marden Walker Syndrome Marfan Syndrome Marinesco-Sjögren Syndrome Maroteaux Lamy Syndrome Marshall Smith Syndrome Marshall Syndrome Mastocytosis Maternally Inherited Leigh Syndrome and NARP Syndrome Maxillofacial Dysostosis May Hegglin Anomaly Mayer-Rokitansky-Küster-Hauser Syndrome McCune Albright Syndrome McKusick Type Metaphyseal Chondrodysplasia MCT8-specific thyroid hormone cell transporter deficiency MDR3 Deficiency Measles Meckel Syndrome MECP2 Duplication Syndrome Medium Chain Acyl CoA Dehydrogenase Deficiency Medullary Sponge Kidney Medulloblastoma Megalencephaly-Capillary Malformation Megalocornea Intellectual Disability Syndrome Meige Syndrome Melanoma, Malignant MELAS Syndrome Meleda Disease Melkersson Rosenthal Syndrome Melnick Needles Syndrome Melorheostosis Menetrier Disease Ménière’s Disease Meningitis Meningitis, Bacterial Meningitis, Tuberculous Meningococcal Meningitis Meningococcemia Menkes Disease MERRF Syndrome Mesenchymal Chondrosarcoma Mesenteric Panniculitis Mesothelioma Metachromatic Leukodystrophy Metaphyseal Chondrodysplasia, Schmid Type Metatropic Dysplasia I Mevalonate Kinase Deficiency Microvillus Inclusion Disease Mikulicz Syndrome Miller Syndrome Mitochondrial Neurogastrointestinal Encephalopathy Mitral Valve Prolapse Syndrome Mixed Connective Tissue Disease (MCTD) Mixed Cryoglobulinemia Moebius Syndrome Monilethrix Mowat-Wilson Syndrome Moyamoya Disease Mucha Habermann disease Muckle-Wells Syndrome Mucolipidosis IV Mucopolysaccharidoses Mucopolysaccharidosis IV Mucopolysaccharidosis Type I Mucopolysaccharidosis Type II Mucopolysaccharidosis Type III Mucopolysaccharidosis Type VII Mucous Membrane Pemphigoid Mulibrey Nanism Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2 Multiple Myeloma Multiple Sclerosis Multiple Sulfatase Deficiency Multiple System Atrophy Mulvihill Smith Syndrome Mumps Muscular Dystrophy, Becker Mutism, Selective Myalgic Encephalomyelitis Myasthenia Gravis Mycosis Fungoides Myelodysplastic Syndromes Myhre Syndrome Myocarditis Myopathy, Congenital, Batten Turner Type Myopathy, Myofibrillar Myopathy, Scapuloperoneal Myotonia Congenita Myotonic Dystrophy N-Acetylglutamate Synthetase Deficiency Nager Syndrome Nail Patella Syndrome Nance-Horan Syndrome Narcolepsy Necrotizing Enterocolitis Necrotizing Fasciitis Nelson Syndrome Nemaline Myopathy Neonatal Hemochromatosis Neonatal Lupus Neonatal-onset Multisystem Inflammatory Disease Nephrogenic Diabetes Insipidus Nephrogenic Systemic Fibrosis Neu Laxova Syndrome Neuroacanthocytosis Neurofibromatosis 1 Neurofibromatosis 2 Neuroleptic Malignant Syndrome Neuromyelitis Optica Neuropathy, Congenital Hypomyelination Nevoid Basal Cell Carcinoma Syndrome New-Onset Refractory Status Epilepticus (NORSE) Niemann Pick Disease Type C Nocardiosis Non-24-Hour Sleep-Wake Disorder Nonketotic Hyperglycinemia Nontuberculous Mycobacterial Lung Disease Noonan Syndrome Norrie Disease Not in List Ocular Albinism Ocular Motor Apraxia, Cogan Type Oculo-Auriculo-Vertebral Spectrum Oculo-Dento-Digital Dysplasia Oculocerebral Syndrome with Hypopigmentation Oculocerebrocutaneous Syndrome Oculocutaneous Albinism Oculopharyngeal Muscular Dystrophy Ogilvie syndrome Olivopontocerebellar Atrophy Ollier Disease Opsoclonus-Myoclonus Syndrome Optic Nerve Hypoplasia Oral-Facial-Digital Syndrome Organic Acidemia Ornithine Transcarbamylase Deficiency Orocraniodigital Syndrome Orthostatic Hypotension OSMED, Heterozygous OSMED, Homozygous Osteogenesis Imperfecta Osteomyelitis Osteonecrosis Osteopetrosis Otopalatodigital Syndrome Type I and II Ovotesticular Disorder of Sex Development Pachydermoperiostosis Pachyonychia Congenita Paget’s Disease Paget’s Disease of the Breast Pallister Hall Syndrome Pallister Killian Mosaic Syndrome Pallister W Syndrome Pancreatic Neuroendocrine Neoplasms (pNENs) Panniculitis, Idiopathic Nodular Pantothenate Kinase-Associated Neurodegeneration Papillitis Papillon Lefèvre Syndrome Paracoccidioidomycosis Paramyotonia Congenita Paraneoplastic Neurologic Syndromes Paroxysmal Cold Hemoglobinuria Paroxysmal Nocturnal Hemoglobinuria Parry Romberg Syndrome Pars Planitis Parsonage Turner Syndrome Pediatric Cardiomyopathy Peeling Skin Syndrome Pelizaeus Merzbacher disease Pemphigus Penta X Syndrome Pentalogy of Cantrell PEPCK Deficiency Perniosis Pertussis Peutz Jeghers Syndrome Pfeiffer Syndrome Phelan-McDermid Syndrome Phenylketonuria Pheochromocytoma Phosphoglycerate Kinase Deficiency Pierre Robin Sequence Pinta Pityriasis Rosea Pityriasis Rubra Pilaris Plague Pleuropulmonary Blastoma PMM2-CDG POEMS Syndrome Poland Syndrome Polyarteritis Nodosa Polycystic Liver Disease Polycythemia Vera Polymorphous Low-Grade Adenocarcinoma Polymyalgia Rheumatica Polymyositis Pompe Disease Pontocerebellar Hypoplasia Porphyria Porphyria Cutanea Tarda Post Polio Syndrome Posterior Uveitis Prader Willi Syndrome Precocious Puberty Primary Biliary Cholangitis Primary Ciliary Dyskinesia Primary Craniosynostosis Primary Familial Brain Calcification Primary Gastric Lymphoma Primary Hyperoxaluria Primary Intestinal Lymphangiectasia Primary Lateral Sclerosis Primary Myelofibrosis Primary Orthostatic Tremor Primary Sclerosing Cholangitis Primary Visual Agnosia Proctitis Progressive Multifocal Leukoencephalopathy Progressive Myoclonus Epilepsy Progressive Osseous Heteroplasia Progressive Supranuclear Palsy Progressive Symmetric Erythrokeratodermia Prolactinoma Propionic Acidemia Protein C Deficiency Proteus syndrome Prune Belly Syndrome Pseudo Hurler Polydystrophy Pseudoachondroplasia Pseudocholinesterase Deficiency Pseudohypoparathyroidism Pseudomyxoma Peritonei Pseudoxanthoma Elasticum (PXE) Psittacosis PTEN Hamartoma Tumor Syndrome Pterygium Syndrome, Multiple Pulmonary Alveolar Proteinosis Pulmonary Arterial Hypertension Pure Red Cell Aplasia, Acquired Pycnodysostosis Pyoderma Gangrenosum Pyridoxine-Dependent Epilepsy Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Kinase Deficiency Q fever Rabies Rabson-Mendenhall Syndrome Radiation Sickness Ramsay Hunt Syndrome Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rare Disease Rasmussen Encephalitis Reactive Arthritis Recessive Multiple Epiphyseal Dysplasia Recurrent Respiratory Papillomatosis Reflex Sympathetic Dystrophy Syndrome Refractory Celiac Disease Refsum Disease Relapsing Polychondritis Renal Agenesis, Bilateral Renal Cell Carcinoma Renal Glycosuria Respiratory Distress Syndrome, Infant Restless Legs syndrome Retinal Vasculopathy with Cerebral Leukodystrophy Retinitis Pigmentosa Retinoblastoma Retinopathy of Prematurity Retinoschisis Retroperitoneal Fibrosis Rett Syndrome Reye Syndrome Rheumatic Fever Rickets, Vitamin D Deficiency Rieger Syndrome Ring Chromosome 4 Roberts Syndrome Robinow Syndrome Rocky Mountain Spotted Fever Rosai-Dorfman Disease Rosenberg Chutorian Syndrome Rothmund-Thomson Syndrome Roussy Lévy Syndrome Rubella Rubella, Congenital Rubinstein Taybi Syndrome Russell Silver Syndrome Ruvalcaba Syndrome RYR-1-Related Diseases Sacrococcygeal Teratoma Saethre Chotzen Syndrome Sakati Syndrome Sandhoff Disease Schimke Immuno-osseous Dysplasia Schimmelpenning Syndrome Schindler disease Schinzel Giedion Syndrome Schinzel Syndrome Schnitzler Syndrome Schwartz Jampel Syndrome Scleroderma Scott Craniodigital Syndrome Seckel Syndrome Segawa Syndrome Senior Løken Syndrome Sennetsu Fever Sepiapterin Reductase Deficiency Septo Optic Dysplasia Setleis Syndrome Severe Chronic Neutropenia Severe Combined Immunodeficiency Sheehan syndrome Short Bowel Syndrome Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) SHORT Syndrome Shprintzen Goldberg Syndrome Shwachman Diamond Syndrome Sialadenitis Sialidosis Sickle Cell Disease Simian B Virus Infection Simple Pulmonary Eosinophilia Simpson Dysmorphia Syndrome Singleton Merten syndrome Sinonasal Undifferentiated Carcinoma Sirenomelia Sitosterolemia Sjögren-Larsson Syndrome SLC13A5 Epileptic Encephalopathy Smallpox Smith Lemli Opitz Syndrome Smith Magenis Syndrome Sneddon Syndrome Snyder-Robinson Syndrome Sotos Syndrome Spina Bifida Spinal Muscular Atrophy Spinocerebellar Ataxia with Axonal Neuropathy Split Hand/Split Foot Malformation Spondylocostal Dysplasia Spondyloepiphyseal Dysplasia Tarda Spondyloepiphyseal Dysplasia, Congenital Spondylothoracic Dysplasia Spontaneous Intracranial Hypotension Sporadic Inclusion Body Myositis Sporadic Porencephaly Sprengel Deformity Staphylococcal Scalded Skin Syndrome Status Epilepticus STEC Hemolytic Uremic Syndrome Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Stickler Syndrome Stiff Person Syndrome Sturge Weber Syndrome Stuve-Wiedemann Syndrome STXBP1 Subacute Sclerosing Panencephalitis Succinic Semialdehyde Dehydrogenase Deficiency Sudden Infant Death Syndrome Sudden Unexplained Death in Childhood Superior Semicircular Canal Dehiscence Susac’s Syndrome Sutton Disease II Sweet Syndrome Swyer syndrome Sydenham Chorea SYNGAP1-related NSID Syphilis, Acquired Syringobulbia Syringomyelia Systemic Capillary Leak Syndrome Systemic Primary Carnitine Deficiency Tangier Disease Tardive Dyskinesia Tarlov Cysts Tarsal Tunnel syndrome Tay Sachs Disease TBCK Tenosynovial Giant Cell Tumor Tethered Cord Syndrome Tetrahydrobiopterin Deficiency Tetralogy of Fallot Thoracic Outlet Syndrome Three M Syndrome Thrombocytopenia Absent Radius Syndrome Thrombotic Thrombocytopenic Purpura Thyroid Cancer Tietze Syndrome Timothy Syndrome Tinnitus Tolosa Hunt Syndrome Tongue Cancer Tongue, Hairy Tooth and Nail Syndrome TORCH Syndrome Tourette Syndrome Townes Brocks Syndrome Toxic Shock Syndrome Transverse Myelitis Treacher Collins Syndrome Tricho Dento Osseous Syndrome Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome Type II Trichorhinophalangeal Syndrome Type III Trichotillomania Trigeminal Neuralgia Trimethylaminuria Triosephosphate Isomerase Deficiency Triploidy Trismus Pseudocamptodactyly Syndrome Trisomy Trisomy 13 Syndrome Trisomy 18 Syndrome Trisomy X Tropical Sprue Truncus Arteriosus Tuberculosis Tuberous Sclerosis Tularemia Tumor Necrosis Factor Receptor-Associated Periodic Syndrome Turcot Syndrome Turner Syndrome Twin-Twin Transfusion Syndrome Typhoid Tyrosine Hydroxylase Deficiency Tyrosinemia Type 1 Ulcerative Colitis Undiagnosed Urofacial Syndrome Urticaria, Cold Urticaria, Papular Urticaria, Physical Usher Syndrome Uterine Leiomyosarcoma VACTERL Association VACTERL with Hydrocephalus Valinemia Variegate Porphyria Vascular Malformations of the Brain Vasculitis Ventricular Septal Defects Vernal Keratonconjunctivitis Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) Vogt-Koyanagi-Harada Disease Von Hippel-Lindau Disease Von Willebrand Disease Waardenburg Syndrome WAGR Syndrome/11p Deletion Syndrome Waldenström’s Macroglobulinemia Walker Warburg Syndrome Wandering Spleen Warburg Micro Syndrome Warm Antibody Hemolytic Anemia Warsaw Breakage Syndrome WAS Related Disorders Weaver Syndrome Weil Syndrome Weill Marchesani syndrome Weismann Netter Stuhl Syndrome Werdnig-Hoffmann Disease Werner Syndrome Wernicke-Korsakoff Syndrome West Nile Encephalitis West syndrome WHIM Syndrome Whipple Disease Wieacker Syndrome Wiedemann Rautenstrauch Syndrome Wildervanck Syndrome Williams Syndrome Wilms’ Tumor Wilson Disease Winchester Syndrome WNT4 Deficiency Wolf-Hirschhorn Syndrome Wolff Parkinson White Syndrome Wolfram Syndrome Wolman Disease Wyburn-Mason Syndrome X linked Lymphoproliferative Syndrome X linked Retinoschisis X-Linked Myopathy with Excessive Autophagy X-Linked Myotubular Myopathy X-linked Opitz G/BBB syndrome X-Linked Protoporphyria Xeroderma Pigmentosum XYY Syndrome Yaws Yunis Varon Syndrome Zellweger Spectrum Disorders Zollinger Ellison Syndrome ZTTK Syndrome
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