NORD® - Rare Disease Pins
What Is the NORD Rare Disease Database?
The NORD (National Organization for Rare Disorders) Rare Disease Database is an inclusive and comprehensive list of rare diseases. “When you hear hoofbeats, think horses, not zebras” is a medical school phrase that means doctors should consider the most likely diagnosis first, rather than the least likely. In medicine, a zebra represents a rare disease. For this reason, the zebra awareness ribbon pin represents rare diseases and all diseases in this rare disease database list.
Personalized Cause® prints the zebra design on an enamel pin that includes a rubber backing. Zebra awareness pins are available in both a non-personalized and personalized version. We also offer a zebra, pink and blue pin in a personalized and non-personalized version. This is a further reminder of the struggle people face when seeking a rare disease diagnosis. The zebra, pink and blue pins further highlight the struggle with being undiagnosed.
Different Designated Colors for the Same Disease or Disorder
Occasionally, a rare disease has a separate, designated color that is different from the zebra image. When this occurs, please feel free to use either the zebra design or designated color. The purpose of the zebra pin is to be a universal symbol of rare disease designation. Our purpose is not to be judgmental of the color you choose. Please avoid analysis paralysis and worry that you are choosing the wrong color when you make your selection. The choice is yours.
Most importantly, your purpose is to raise awareness. This is especially true for diseases and disorders that get little recognition or may hit close to home. Ultimately, our goal is to help unknown diseases and disorders gain recognition. Again, we do this with the use of a simple, but meaningful, awareness ribbon pin.
What is a Rare Disease as Designated by NORD?
A rare disease, as designated by NORD, is a disease, disorder, illness or condition that affects fewer than 200,000 Americans. In total, there are over 10,000 rare diseases that affect more than 30 million Americans. Because of this, NORD dedicates itself to the identification, treatment, and cure of these diseases. They do this through comprehensive education, advocacy, research, and service programs.
NORD rare diseases present unique challenges for researchers and companies working toward treatments and cures. This is due, in part, to:
- Small patient populations.
- Hard to diagnose or delayed diagnosis due to lack of education and understanding among medical professionals.
- Poor understanding of the natural history of the disease and its progression without intervention.
- No prior pathways to follow, including clinical endpoints that are often unclear.
- Enrollment and retention challenges.
What is an Orphan Drug?
Lastly, let’s discuss the purpose of orphan drugs. An orphan drug is a drug intended to treat a condition affecting fewer than 200,000 Americans. Or, which will not be profitable within 7 years following approval by the FDA. An orphan drug is a medication used to treat, prevent, or diagnose a rare disease or condition. In other words, the term “orphan” refers to the fact that these drugs may have been abandoned or “orphaned.” This is due to a lack of funding or interest in development.
Special Circumstances for Orphan Drug Approval
However, patients with rare diseases desperately need orphan drugs. The Orphan Drug Act (ODA) passed in 1983. It is designed to encourage the development of orphan drugs by providing financial incentives and other assistance to manufacturers. As a result, the FDA may provide Orphan Drug Designation to a drug or biological product that is being investigated for rare disease use. The ODA has led to the approval of more than 600 orphan drugs.
A Comprehensive List of NORD® Rare Diseases
A
| Aarskog Syndrome |
| Abetalipoproteinemia |
| Ablepharon-Macrostomia Syndrome |
| Acanthocheilonemiasis |
| Aceruloplasminemia |
| Achalasia |
| Achard Thiers Syndrome |
| Achondrogenesis |
| Achondroplasia |
| Acid Sphingomyelinase Deficiency |
| 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 |
| Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
| Acute Cholecystitis |
| Acute Disseminated Encephalomyelitis |
| Acute Eosinophilic Pneumonia |
| Acute Intermittent Porphyria |
| Acute Myeloid Leukemia |
| Acute Promyelocytic Leukemia |
| Acute Respiratory Distress Syndrome |
| Adams-Oliver Syndrome |
| ADCY5-Related Dyskinesia |
| Addison’s Disease |
| Adenoid Cystic Carcinoma |
| Adenylosuccinate Lyase Deficiency |
| Adie Syndrome |
| ADNP Syndrome |
| Adult Neuronal Ceroid Lipofuscinosis |
| Adult Polyglucosan Body Disease |
| Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
| Adult-Onset Still’s Disease |
| AEC Syndrome |
| African Iron Overload |
| Agammaglobulinemia |
| Agenesis of Corpus Callosum |
| Agranulocytosis, Acquired |
| Ahumada-Del Castillo Syndrome |
| Aicardi Syndrome |
| Aicardi-Goutières 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 |
| Ameloblastic Carcinoma |
| Ameloblastoma |
| Amelogenesis Imperfecta |
| Amniotic Band Syndrome |
| Amniotic Fluid Embolism |
| Amyloidosis |
| Amyotrophic Lateral Sclerosis |
| Anaplastic Astrocytoma |
| Andersen Disease (GSD IV) |
| Andersen-Tawil Syndrome |
| Anemia of Chronic Disease |
| Anemia, Hemolytic, Acquired Autoimmune |
| Anemia, Pernicious |
| Anencephaly |
| Angelman Syndrome |
| Angioimmunoblastic T-Cell Lymphoma |
| Aniridia Cerebellar Ataxia Mental Deficiency |
| Anthrax |
| Antiphospholipid Syndrome |
| Antisynthetase Syndrome |
| Antithrombin Deficiency |
| Antley-Bixler Syndrome |
| AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP) |
| Apert Syndrome |
| Aplasia Cutis Congenita |
| Apnea, Infantile |
| Appendiceal Cancer and Tumors |
| Apraxia |
| Arachnoid Cysts |
| Arginase-1 Deficiency |
| Arginine Vasopressin Deficiency |
| Arginine: Glycine Amidinotransferase Deficiency |
| Argininosuccinic Aciduria |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
| Arterial Tortuosity Syndrome |
| Arteriovenous Malformation |
| Arteritis, Takayasu |
| Arthritis, Infectious |
| Arthrogryposis Multiplex Congenita |
| Arthrogryposis Renal Dysfunction Cholestasis Syndrome |
| ASAH1-Related Disorders |
| Asherman’s Syndrome |
| Asherson’s Syndrome |
| Aspartylglycosaminuria |
| Aspergillosis |
| Asphyxiating Thoracic Dystrophy |
| Astrocytoma |
| ASXL3-Related Disorder |
| Ataxia Telangiectasia |
| Ataxia with Vitamin E Deficiency |
| ATR-16 Syndrome |
| Atransferrinemia |
| Atrial Septal Defects |
| Atrioventricular Septal Defect |
| Atypical Hemolytic Uremic Syndrome |
| Auditory Neuropathy Spectrum Disorder |
| Autoimmune Blistering Diseases |
| Autoimmune Blistering Diseases |
| Autoimmune Polyendocrine Syndrome Type II |
| Autoimmune Polyglandular Syndrome Type 1 |
| Autoinflammation with Infantile Enterocolitis |
| Autosomal Dominant Hereditary Ataxia |
| Autosomal Dominant Hyper IgE Syndrome |
| Autosomal Dominant Polycystic Kidney Disease |
| Autosomal Dominant Tubulo-Interstitial Kidney Disease |
| Autosomal Recessive Hyper IgE Syndrome |
| Autosomal Recessive Hypophosphatemic Rickets Type 2 |
| Autosomal Recessive Polycystic Kidney Disease |
| Axenfeld-Rieger Syndrome |
B
| Babesiosis |
| Bachmann-Bupp Syndrome |
| Bachmann-Bupp Syndrome |
| Balo Disease |
| Bannayan-Riley-Ruvalcaba Syndrome |
| Banti’s Syndrome |
| Barakat Syndrome |
| Bardet-Biedl Syndrome |
| Barth Syndrome |
| Bartonellosis |
| Bartter Syndrome |
| Beck-Fahrner Syndrome |
| Beckwith-Wiedemann Syndrome |
| Behçet’s Syndrome |
| Bejel |
| Bell’s Palsy |
| Benign Essential Blepharospasm |
| Benign Paroxysmal Positional Vertigo |
| Bent Bone Dysplasia Syndrome |
| Bernard-Soulier Syndrome |
| Berylliosis |
| Best Vitelliform Macular Dystrophy |
| Beta Thalassemia |
| Beta-Mannosidosis |
| 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 |
| Bohring-Opitz Syndrome |
| Börjeson-Forssman-Lehman Syndrome |
| Bosma Arhinia Microphthalmia Syndrome |
| Botulism |
| Bowen Disease |
| Bowen Hutterite Syndrome |
| Bowenoid Papulosis |
| Brain Small Vessel Disease 1 With or Without Ocular Anomalies |
| Branchio Oculo Facial Syndrome |
| Branchiootorenal Spectrum Disorders |
| Bronchopulmonary Dysplasia |
| Brown Séquard Syndrome |
| Brown Syndrome |
| Brucellosis |
| Brugada Syndrome |
| Budd Chiari Syndrome |
| Buerger’s Disease |
| Bullous Pemphigoid |
C
| C Syndrome |
| C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis |
| CADASIL |
| Campomelic Syndrome |
| Camurati-Engelmann Disease |
| Canavan Disease |
| CARASIL |
| Carbamoyl Phosphate Synthetase 1 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 Deficiency Disorder |
| Central Core Disease |
| Centronuclear Myopathy |
| Cerebellar Agenesis |
| Cerebral Creatine Deficiency Syndromes |
| Cerebral Folate Deficiency |
| Cerebrocostomandibular Syndrome |
| Cerebrotendinous Xanthomatosis |
| Cervical Dystonia |
| Cervical Teratoma |
| Chanarin-Dorfman Syndrome |
| Chandler’s Syndrome |
| Charcot-Marie-Tooth Disease |
| CHARGE Syndrome |
| Chediak Higashi Syndrome |
| Chiari Frommel Syndrome |
| Chiari Malformations |
| Chikungunya |
| Chilaiditi’s Syndrome |
| Cholangiocarcinoma |
| Cholera |
| Cholesteryl Ester Storage Disease |
| 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 21 Ring |
| Chromosome 22 Ring |
| Chromosome 22q11.2 Deletion Syndrome |
| Chromosome 3, Monosomy 3p |
| Chromosome 3, Trisomy 3q2 |
| Chromosome 4, Monosomy Distal 4q |
| Chromosome 4, Partial Trisomy Distal 4q |
| Chromosome 4, Trisomy 4p |
| Chromosome 4q Deletion |
| 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 |
| Chronic Eosinophilic Pneumonia |
| Chronic Granulomatous Disease |
| Chronic Inflammatory Demyelinating Polyneuropathy |
| Chronic Intestinal Pseudo-Obstruction |
| Chronic Lymphocytic Leukemia |
| Chronic Myelogenous Leukemia |
| Cicatricial Alopecia |
| Ciguatera Fish Poisoning |
| Citrullinemia Type 1 |
| Classic Hereditary Hemochromatosis |
| Classic Infantile CLN1 Disease |
| Cleidocranial Dysplasia |
| Clostridial Myonecrosis |
| CLOVES Syndrome |
| Coats Disease |
| Cockayne Syndrome |
| Coffin Lowry Syndrome |
| Coffin-Siris Syndrome |
| Cogan Reese Syndrome |
| Cohen Syndrome |
| Cohen-Gibson Syndrome |
| COL4A1/A2-Related Disorders |
| Cold Agglutinin Disease |
| Collagen Type VI-Related Disorders |
| Colorado Tick Fever |
| Common Variable Immune Deficiency |
| Complete DiGeorge Syndrome |
| Complex Regional Pain Syndrome |
| Cone Dystrophy |
| Congenital Adrenal Hyperplasia |
| Congenital Afibrinogenemia |
| Congenital Athymia |
| 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 Heart Block |
| Congenital Hepatic Fibrosis |
| Congenital Lactic Acidosis |
| Congenital Leptin Deficiency |
| Congenital Muscular Dystrophy |
| Congenital Myasthenic Syndromes |
| Congenital Myopathy |
| Congenital Pulmonary Lymphangiectasia |
| Congenital Sucrase-Isomaltase Deficiency |
| Congenital Syphilis |
| Congenital Tracheomalacia |
| Congenital Type 1 Plasminogen Deficiency |
| Congenital Varicella Syndrome |
| Conradi Hünermann Syndrome |
| COPA Syndrome |
| Cor Triatriatum |
| Corneal Dystrophies |
| Cornelia de Lange Syndrome |
| Corticobasal Degeneration |
| Costello Syndrome |
| Craniofrontonasal Dysplasia |
| Craniometaphyseal Dysplasia |
| Craniopharyngioma |
| Creatine Transporter Deficiency |
| Creutzfeldt-Jakob Disease |
| Cri du Chat Syndrome |
| Crigler Najjar Syndrome |
| Cronkhite-Canada Syndrome |
| Crouzon Syndrome |
| Cryptococcosis |
| CTNNB1 Syndrome |
| 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 |
D
| Dysbetalipoproteinemia |
| Dysembryoplastic neuroepithelial tumor |
| Dysequilibrium syndrome |
| Dysferlin-related limb-girdle muscular dystrophy R2 |
| Dyskeratosis congenita |
| Dysosteosclerosis |
| Dysostosis with brachydactyly |
| Dysphagia lusoria |
| Dysraphic spinal cord lipoma |
| Dysraphism with stalk |
| Dystonia 16 |
| Dystonia 28 |
| Dystonia-parkinsonism-hypermanganesemia syndrome |
| Dystrophic epidermolysis bullosa |
| Dystrophic epidermolysis bullosa pruriginosa |
E
| Eales Disease |
| Ectodermal Dysplasias |
| Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate |
| EEF1A2-Related Neurodevelopmental Disorder |
| Ehlers Danlos Syndrome |
| 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 |
| Endomyocardial Fibrosis |
| Enterobiasis |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
| Eosinophilia-Myalgia Syndrome |
| Eosinophilic Esophagitis |
| Eosinophilic Fasciitis |
| Eosinophilic Gastroenteritis |
| Eosinophilic Granulomatosis with Polyangiitis |
| Epidermal Nevus Syndromes |
| Epidermolysis Bullosa |
| Epidermolytic Ichthyosis |
| Epilepsy with Eyelid Myoclonia |
| Epithelioid Hemangioendothelioma |
| Epitheliopathy, Acute Posterior Multifocal Placoid Pigment |
| Erdheim Chester Disease |
| Erythema Multiforme |
| Erythrokeratoderma |
| Erythromelalgia |
| Erythropoietic Protoporphyria and X-Linked Protoporphyria |
| ESCO2 Spectrum Disorder |
| Esophageal Atresia and/or Tracheoesophageal Fistula |
| Esophageal Cancer |
| Essential Iris Atrophy |
| Essential Thrombocythemia |
| Evans Syndrome |
| Ewing Sarcoma |
F
| Fabry Disease |
| Facioscapulohumeral Muscular Dystrophy |
| Factor VII Deficiency |
| Factor X Deficiency |
| Factor XI Deficiency |
| Factor XII Deficiency |
| Factor XIII Deficiency |
| Familial Adenomatous Polyposis |
| Familial Calcium Pyrophosphate Deposition Disease |
| Familial Cold Autoinflammatory Syndrome |
| Familial Encephalopathy with Neuroserpin Inclusion Bodies |
| Familial Eosinophilic Cellulitis |
| Familial Hypophosphatemia |
| Familial Isolated Hypoparathyroidism |
| Familial Lipoprotein Lipase Deficiency |
| Familial Mediterranean Fever |
| Familial Partial Lipodystrophy |
| Familial Platelet Disorder with Associated Myeloid Malignancy |
| Fanconi Anemia |
| Fascioliasis |
| Fatal Familial Insomnia |
| Felty Syndrome |
| Femoral Facial Syndrome |
| Femoral Facial Syndrome |
| Fetal and Neonatal Alloimmune Thrombocytopenia |
| Fetal Hydantoin Syndrome |
| Fetal Retinoid Syndrome |
| Fetal Valproate Syndrome |
| FG Syndrome Type 1 |
| Fibrillary Glomerulonephritis |
| Fibrodysplasia Ossificans Progressiva |
| Fibrolamellar Carcinoma |
| Fibromuscular Dysplasia |
| Fibrosing Mediastinitis |
| Fibrous Dysplasia |
| Filariasis |
| Filippi Syndrome |
| Fitz Hugh Curtis Syndrome |
| Floating Harbor Syndrome |
| Focal Dermal Hypoplasia |
| Focal Segmental Glomerulosclerosis |
| Follicular Lymphoma |
| 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 Syndrome |
| Frontofacionasal Dysplasia |
| Frontonasal Dysplasia |
| Frontotemporal Degeneration |
| Fructose Intolerance, Hereditary |
| Fryns Syndrome |
| Fucosidosis |
| Fukuyama Type Congenital Muscular Dystrophy |
| Functional Neurological Disorder |
G
| Galactosemia |
| Galloway-Mowat Syndrome |
| Gastritis, Chronic, Erosive |
| Gastrointestinal Stromal Tumors |
| Gastroparesis |
| Gastroschisis |
| Gaucher Disease |
| General Myoclonus |
| Generalized Arterial Calcification of Infancy |
| Generalized Pustular Psoriasis |
| Gerstmann Syndrome |
| Gerstmann-Sträussler-Scheinker Disease |
| Gestational Trophoblastic Disease |
| Gianotti Crosti Syndrome |
| Giant Axonal Neuropathy |
| Giant Cell Arteritis |
| Giant Cell Myocarditis |
| Giant Congenital Melanocytic Nevus |
| Gilbert Syndrome |
| Gitelman Syndrome |
| Glanzmann Thrombasthenia |
| Glioblastoma |
| Glioma |
| Glucose Transporter Type 1 Deficiency Syndrome |
| Glucose-6-Phosphate Dehydrogenase Deficiency |
| Glucose-Galactose Malabsorption |
| Glutaric Aciduria Type I |
| Glutaric Aciduria Type II |
| Glutathione Synthetase Deficiency |
| Glycogen Storage Disease Type 7 |
| Glycogen Storage Disease Type I |
| Glycogen Storage Disease Type III |
| Glycogen Storage Disease Type IX |
| Glycogen Storage Disease Type V |
| Glycogen Storage Disease Type VI |
| GM3 Synthase Deficiency |
| GNB1-Related Disorder |
| GNE Myopathy |
| Goblet Cell Adenocarcinoma |
| Goodpasture Syndrome |
| Gordon Syndrome |
| Gorham-Stout Disease |
| Gorlin-Chaudhry-Moss Syndrome |
| Gottron Syndrome |
| GPT2 Deficiency |
| Graft versus Host Disease |
| Granuloma Annulare |
| Granulomatosis with Polyangiitis |
| Graves’ Disease |
| Greig Cephalopolysyndactyly Syndrome |
| Growth Hormone Deficiency |
| Growth Hormone Insensitivity |
| Guanidinoacetate Methyltransferase Deficiency |
| Guillain-Barré Syndrome |
H
| Hailey-Hailey Disease |
| Haim-Munk Syndrome |
| Hairy Cell Leukemia |
| Hajdu Cheney Syndrome |
| Hallermann-Streiff Syndrome |
| Hanhart Syndrome |
| Hantavirus Pulmonary Syndrome |
| Harlequin Ichthyosis |
| Hartnup Disease |
| Hashimoto Encephalopathy |
| Heavy Metal Poisoning |
| Hemimegalencephaly |
| Hemiplegic Migraine |
| Hemolytic Disease of the Fetus and Newborn |
| Hemophagocytic Lymphohistiocytosis |
| Hemophilia A |
| Hemophilia B |
| Henoch-Schönlein Purpura |
| Hepatic Encephalopathy |
| Hepatitis D |
| Hepatocellular Carcinoma |
| Hepatoerythropoietic Porphyria |
| Hepatopulmonary Syndrome |
| Hepatorenal Syndrome |
| Hereditary Angioedema |
| Hereditary Breast and Ovarian Cancer Syndrome |
| Hereditary Coproporphyria |
| Hereditary Hemorrhagic Telangiectasia |
| Hereditary Hyperphosphatasia |
| Hereditary Leiomyomatosis and Renal Cell Carcinoma |
| Hereditary Multiple Osteochondromas |
| Hereditary Neuralgic Amyotrophy |
| Hereditary Nonspherocytic Hemolytic Anemia |
| Hereditary Orotic Aciduria |
| 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 |
| Hereditary Spherocytosis |
| Hermansky Pudlak Syndrome |
| Herpes, Neonatal |
| Hiccups, Chronic |
| Hinman Syndrome |
| Hirschsprung Disease |
| Histidinemia |
| HNRNPU-Related Disorder |
| Hodgkin’s Disease |
| Holoprosencephaly |
| Holt Oram Syndrome |
| Homocystinuria due to Cystathionine Beta-Synthase Deficiency |
| Homozygous Familial Hypercholesterolemia |
| 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 Syndrome |
| Hydranencephaly |
| Hydrocephalus |
| Hyper IgM Syndromes |
| Hyperekplexia |
| Hyperferritinemia Cataract Syndrome |
| Hyperlipoproteinemia Type III |
| Hyperostosis Frontalis Interna |
| Hyperprolinemia Type I |
| Hyperprolinemia Type II |
| Hypersensitivity Pneumonitis |
| Hypochondroplasia |
| Hypohidrotic Ectodermal Dysplasia |
| Hypokalemia |
| Hypomelanosis of Ito |
| Hypoparathyroidism |
| Hypophosphatasia |
| Hypoplastic Left Heart Syndrome |
| Hypothalamic Hamartoma |
| Hypothalamic Obesity, Acquired |
I
| I Cell Disease |
| Ichthyosis |
| Ichthyosis Hystrix, Curth Macklin Type |
| Ichthyosis Vulgaris |
| Ichthyosis, CHILD Syndrome |
| Ichthyosis, Netherton Syndrome |
| Ichthyosis, X Linked |
| Idiopathic Intracranial Hypertension |
| Idiopathic Nodular Panniculitis |
| Idiopathic Pulmonary Fibrosis |
| Idiopathic Pulmonary Hemosiderosis |
| Idiopathic Subglottic Stenosis |
| IgA Nephropathy |
| Imagawa-Matsumoto Syndrome |
| Immune Thrombocytopenia |
| Immunotactoid Glomerulopathy |
| Imperforate Anus |
| Incontinentia Pigmenti |
| Infantile Myofibromatosis |
| Infective Endocarditis |
| IQSEC2-Related Disorder |
| IRF6-Related Disorders |
| Isolated Aniridia |
| Isovaleric Acidemia |
| Ivemark Syndrome |
J
| Jackson-Weiss Syndrome |
| Jansen Type Metaphyseal Chondrodysplasia |
| Jejunal Atresia |
| Jervell and Lange-Nielsen Syndrome |
| Johanson-Blizzard Syndrome |
| Joubert Syndrome |
| Jumping Frenchmen of Maine |
| Juvenile CLN3 Disease |
| Juvenile Hemochromatosis |
| Juvenile Myelomonocytic Leukemia |
| Juvenile Ossifying Fibroma |
| Juvenile Pilocytic Astrocytoma |
K
| Kabuki Syndrome |
| Kallmann Syndrome |
| Kasabach-Merritt Phenomenon |
| KAT6A Syndrome |
| KAT6B-Related Disorders |
| Kawasaki Disease |
| KBG Syndrome |
| KCNB1 Encephalopathy |
| KCNK9 Imprinting Syndrome |
| KCNQ2 Developmental and Epileptic Encephalopathy |
| Kearns Sayre Syndrome |
| Kennedy Disease |
| Kenny-Caffey Syndrome |
| Keratitis Ichthyosis Deafness Syndrome |
| Keratoconus |
| Keratolytic Winter Erythema |
| Keratomalacia |
| Keratosis Follicularis |
| Keratosis Follicularis Spinulosa Decalvans |
| Kernicterus |
| Kienböck Disease |
| KIF1A-Related Disorder |
| Kikuchi-Fujimoto Disease |
| Kleefstra Syndrome |
| Kleine-Levin Syndrome |
| Klippel-Feil Syndrome |
| Klippel-Trenaunay Syndrome |
| Kluver-Bucy Syndrome |
| Kniest Dysplasia |
| Kohler Disease |
| Koolen-de Vries Syndrome |
| Krabbe Disease |
| Kufor Rakeb Syndrome |
L
| L1 Syndrome |
| Laband Syndrome |
| LADD syndrome |
| Lafora Disease |
| Lambert-Eaton Myasthenic Syndrome |
| Lamellar Ichthyosis |
| Landau Kleffner Syndrome |
| Langerhans Cell Histiocytosis |
| Large Granular Lymphocyte Leukemia |
| Larsen Syndrome |
| Laryngeal Dystonia |
| Laryngotracheoesophageal Cleft |
| Laurence-Moon Syndrome |
| 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 |
| LEPR Deficiency |
| Leprechaunism |
| Leprosy |
| Leptospirosis |
| Leri Pleonosteosis |
| Leri-Weill Dyschondrosteosis |
| Lesch Nyhan Syndrome |
| Leukocyte Adhesion Deficiency Syndromes |
| Leukodystrophy |
| Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation |
| Levy-Yeboa Syndrome |
| Li-Fraumeni Syndrome |
| Lichen Planus |
| Lichen Sclerosus |
| Liddle Syndrome |
| Limb-Girdle Muscular Dystrophies |
| Liposarcoma |
| Lissencephaly |
| Listeriosis |
| Locked In Syndrome |
| Loeys-Dietz Syndrome |
| Long QT Syndrome |
| Low Gamma-GT Familial Intrahepatic Cholestasis |
| Lowe syndrome |
| Lymphangioleiomyomatosis |
| Lymphangioleiomyomatosis |
| Lymphedema-Distichiasis Syndrome |
| Lymphocytic Infiltrate of Jessner |
| Lymphomatoid Granulomatosis |
| Lysosomal Free Sialic Acid Storage Disorders |
| Lysosomal Storage Disorders |
M
| Machado-Joseph Disease |
| Macroglossia |
| Madelung’s Disease |
| Maffucci Syndrome |
| Mal de Debarquement |
| Malan Syndrome |
| Malaria |
| Malignant Hyperthermia |
| Mallory Weiss Syndrome |
| Mandibuloacral Dysplasia |
| Mantle Cell Lymphoma |
| MAPK8IP3-Related Neurodevelopmental Disorder |
| Maple Syrup Urine Disease |
| Marcus Gunn Phenomenon |
| Marden Walker Syndrome |
| Marfan Syndrome |
| Marinesco-Sjögren Syndrome |
| Maroteaux Lamy Syndrome |
| Marshall Syndrome |
| Marshall-Smith 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 |
| Median Arcuate Ligament Syndrome |
| Medium Chain Acyl CoA Dehydrogenase Deficiency |
| Medullary Sponge Kidney |
| Medulloblastoma |
| MEF2C Deficiency |
| Megalencephaly-Capillary Malformation |
| Megaloblastic Anemia |
| Megalocornea Intellectual Disability Syndrome |
| Meier-Gorlin Syndrome |
| Meige Syndrome |
| Melanoma, Malignant |
| MELAS Syndrome |
| Meleda Disease |
| Melkersson-Rosenthal Syndrome |
| Melnick Needles Syndrome |
| Melorheostosis |
| Menetrier Disease |
| Meningioma |
| Meningitis |
| Meningitis, Bacterial |
| Meningitis, Tuberculous |
| Meningococcal Meningitis |
| Meningococcemia |
| Menkes Disease |
| Merkel Cell Carcinoma |
| MERRF Syndrome |
| Mesenchymal Chondrosarcoma |
| Mesenteric Panniculitis |
| Mesothelioma |
| Metachromatic Leukodystrophy |
| Metaphyseal Chondrodysplasia, Schmid Type |
| Metatropic Dysplasia I |
| Methylmalonic Acidemia |
| Mevalonate Kinase Deficiency |
| Microvillus Inclusion Disease |
| Mikulicz Syndrome |
| Miller Fisher Syndrome |
| Miller Syndrome |
| Mitochondrial Neurogastrointestinal Encephalopathy |
| Mitral Valve Prolapse Syndrome |
| Mixed Connective Tissue Disease |
| Mixed Cryoglobulinemia |
| MN1 C-Terminal Truncation Syndrome |
| Moebius Syndrome |
| MOG Antibody Disease |
| Molybdenum Cofactor Deficiency |
| Monilethrix |
| Mosaic Trisomy 22 |
| Mosaic Trisomy 9 |
| Mowat-Wilson Syndrome |
| Moyamoya Disease |
| Mucha Habermann Disease |
| Muckle-Wells Syndrome |
| Muckle-Wells Syndrome |
| Mucopolysaccharidoses |
| Mucopolysaccharidosis IV |
| Mucopolysaccharidosis Type I |
| Mucopolysaccharidosis Type II |
| Mucopolysaccharidosis Type III |
| Mucopolysaccharidosis Type VII |
| Mucormycosis |
| Mucous Membrane Pemphigoid |
| Mueller-Weisse Disease |
| Muenke Syndrome |
| Mulibrey Nanism |
| Multicentric Osteolysis Nodulosis and Arthropathy Spectrum |
| Multifocal Motor Neuropathy |
| 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 |
| Myasthenia Gravis |
| Mycosis Fungoides |
| Myelodysplastic Syndromes |
| Myhre Syndrome |
| Myocarditis |
| Myoclonic Atonic Epilepsy |
| Myofibrillar Myopathy |
| Myopathy, Scapuloperoneal |
| Myotonia Congenita |
| Myotonic Dystrophy |
N
| N-Acetylglutamate Synthetase Deficiency |
| Nager Syndrome |
| Nail Patella Syndrome |
| Nance-Horan Syndrome |
| Narcolepsy |
| Necrotizing Enterocolitis |
| Necrotizing Fasciitis |
| Nelson Syndrome |
| Nemaline Myopathy |
| Neonatal Cholestasis |
| Neonatal Hemochromatosis |
| Neonatal Lupus |
| Neonatal-Onset Multisystem Inflammatory Disease |
| Nephrogenic Diabetes Insipidus |
| Nephrogenic Systemic Fibrosis |
| Neu Laxova Syndrome |
| Neuroacanthocytosis |
| Neurofibromatosis 1 |
| Neuroleptic Malignant Syndrome |
| Neuromyelitis Optica Spectrum Disorder |
| Neuropathic Ocular Pain |
| Neuropathy, Congenital Hypomyelination |
| Neurotrophic Keratitis |
| Nevoid Basal Cell Carcinoma Syndrome |
| Nevus Sebaceus Syndrome |
| NF2-Related Schwannomatosis |
| NGLY1 Deficiency |
| Niemann Pick Disease Type C |
| Nocardiosis |
| Non-24-Hour Sleep-Wake Disorder |
| Nonketotic Hyperglycinemia |
| Nontuberculous Mycobacterial Lung Disease |
| Noonan Syndrome |
| Noonan Syndrome with Multiple Lentigines |
| Norrie Disease |
| NORSE (New Onset Refractory Status Epilepticus) and FIRES (Febrile Infection-Related Epilepsy Syndrome) |
O
| Obstructive Hypertrophic Cardiomyopathy |
| Ocular Albinism |
| Ocular Albinism with Late Onset Sensorineural Deafness |
| Ocular Melanoma |
| Ocular Motor Apraxia, Cogan Type |
| Oculo-Auriculo-Vertebral Spectrum |
| Oculo-Dento-Digital Dysplasia |
| Oculocerebral Syndrome with Hypopigmentation |
| Oculocerebrocutaneous Syndrome |
| Oculocutaneous Albinism |
| Oculopharyngeal Muscular Dystrophy |
| Ogden Syndrome |
| Ollier Disease |
| Opsoclonus-Myoclonus-Ataxia Syndrome |
| Optic Nerve Hypoplasia |
| Oral-Facial-Digital Syndrome |
| Organizing Pneumonia |
| Ornithine Transcarbamylase Deficiency |
| Orocraniodigital Syndrome |
| Orthostatic Hypotension |
| OSMED, Heterozygous |
| OSMED, Homozygous |
| Osteochondritis Dissecans |
| Osteogenesis Imperfecta |
| Osteomyelitis |
| Osteonecrosis |
| Osteopetrosis |
| Osteosarcoma |
| Otopalatodigital Syndrome Type I and II |
| Ovarian Cancer |
| Ovarian Remnant Syndrome |
| Ovotesticular Disorder of Sex Development |
P
| Pachydermoperiostosis |
| Pachyonychia Congenita |
| Paget’s Disease |
| Paget’s Disease of the Breast |
| Pallister Killian Mosaic Syndrome |
| Pallister W Syndrome |
| Pallister-Hall Syndrome |
| Palmoplantar Pustulosis |
| Pancreatic Neuroendocrine Neoplasms (pNENs) |
| 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 |
| Partial Androgen Insensitivity Syndrome |
| PCSK1 Deficiency |
| Pediatric Cardiomyopathy |
| Pediatric Crohn’s Disease |
| Pediatric Non-Small Cell Lung Cancer |
| Peeling Skin Syndrome |
| Pelizaeus-Merzbacher Disease |
| Pemphigus and Pemphigoid |
| Pendred Syndrome |
| Penta X Syndrome |
| Pentalogy of Cantrell |
| PEPCK Deficiency |
| Perivascular Epithelioid Cell Neoplasm |
| Perniosis |
| Perrault Syndrome |
| Pertussis |
| Peutz Jeghers Syndrome |
| Pfeiffer Syndrome |
| PHACE Syndrome |
| Phelan-McDermid Syndrome |
| Phenylketonuria |
| Pheochromocytoma/Paraganglioma |
| Phosphoglycerate Kinase Deficiency |
| Pierre Robin Sequence |
| PIK3CA-Related Overgrowth Spectrum |
| Pinta |
| Pitt-Hopkins Syndrome |
| Pityriasis Rosea |
| Pityriasis Rubra Pilaris |
| PLA2G6-Associated Neurodegeneration |
| Plague |
| Pleuropulmonary Blastoma |
| PMM2-CDG |
| Pneumocystis Pneumonia |
| POEMS Syndrome |
| Poland Syndrome |
| Polyarteritis Nodosa |
| Polycystic Liver Disease |
| Polycythemia Vera |
| Polymorphous Low-Grade Adenocarcinoma |
| Polymyalgia Rheumatica |
| Polymyositis and Necrotizing Myopathy |
| POMC Deficiency |
| Pompe Disease |
| Pontocerebellar Hypoplasia |
| Porphyria Cutanea Tarda |
| Porphyrias |
| Post Polio Syndrome |
| Post-Transplant Lymphoproliferative Disease |
| Posterior Urethral Valves |
| Posterior Uveitis |
| Potter Syndrome |
| Prader-Willi Syndrome |
| Precocious Puberty |
| Primary Biliary Cholangitis |
| Primary Central Nervous System Lymphoma |
| Primary Ciliary Dyskinesia |
| Primary Craniosynostosis |
| Primary Distal Renal Tubular Acidosis |
| Primary Familial Brain Calcification |
| Primary Gastric Lymphoma |
| Primary Hyperoxaluria |
| Primary Hyperparathyroidism |
| Primary Intestinal Lymphangiectasia |
| Primary Lateral Sclerosis |
| Primary Lymphedema |
| Primary Mitochondrial Myopathies |
| Primary Myelofibrosis |
| Primary Orthostatic Tremor |
| Primary Sclerosing Cholangitis |
| Primary Visual Agnosia |
| Primrose Syndrome |
| Proctitis |
| Progestogen Hypersensitivity |
| Progressive Multifocal Leukoencephalopathy |
| Progressive Myoclonus Epilepsy |
| Progressive Osseous Heteroplasia |
| Progressive Supranuclear Palsy |
| Prolactinoma |
| Propionic Acidemia |
| Protein C Deficiency |
| Protein S Deficiency |
| Proteus Syndrome |
| PRRT2-Associated Paroxysmal Movement Disorders |
| Prune Belly Syndrome |
| Prurigo Nodularis |
| Pseudo Hurler Polydystrophy |
| Pseudoachondroplasia |
| Pseudocholinesterase Deficiency |
| Pseudohypoparathyroidism |
| Pseudomyxoma Peritonei |
| Pseudoxanthoma Elasticum |
| Psittacosis |
| PTEN Hamartoma Tumor Syndrome |
| Pterygium Syndrome, Multiple |
| Pulmonary Alveolar Proteinosis |
| Pulmonary Arterial Hypertension |
| Pure Autonomic Failure |
| Pure Red Cell Aplasia, Acquired |
| Pycnodysostosis |
| Pyoderma Gangrenosum |
| Pyridoxine-Dependent Epilepsy |
| Pyruvate Carboxylase Deficiency |
| Pyruvate Dehydrogenase Complex Deficiency |
| Pyruvate Kinase Deficiency |
Q
| Q fever |
R
| Rabies |
| Rabson-Mendenhall Syndrome |
| Radiation Sickness |
| Ramsay Hunt Syndrome |
| Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation |
| Rasmussen Encephalitis |
| Reactive Arthritis |
| Recessive Multiple Epiphyseal Dysplasia |
| Recessive Titinopathy |
| Recurrent Pericarditis |
| Recurrent Respiratory Papillomatosis |
| Refractory Celiac Disease |
| Refsum Disease |
| Relapsing Polychondritis |
| Renal Agenesis, Bilateral |
| Renal Cell Carcinoma |
| Renal Glycosuria |
| Renal Medullary Carcinoma |
| Renal Oncocytoma |
| Respiratory Distress Syndrome, Infant |
| Restless Legs Syndrome |
| Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations |
| Retinitis Pigmentosa |
| Retinoblastoma |
| Retinopathy of Prematurity |
| Retinoschisis |
| Retroperitoneal Fibrosis |
| Rett Syndrome |
| Reye Syndrome |
| Rheumatic Fever |
| Rhizomelic Chondrodysplasia Punctata |
| Riboflavin Transporter Deficiency |
| Ring Chromosome 4 |
| 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 |
| RYR1-Related Diseases |
S
| Sacrococcygeal Teratoma |
| Saethre Chotzen Syndrome |
| Sakati Syndrome |
| Sandhoff Disease |
| Schimke Immuno-Osseous Dysplasia |
| 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 |
| SETBP1 Haploinsufficiency Disorder |
| SETD1B-Related Neurodevelopmental Disorder |
| Setleis Syndrome |
| Severe Chronic Neutropenia |
| Severe Combined Immunodeficiency |
| Shashi-Pena Syndrome |
| Sheehan Syndrome |
| Short Bowel Syndrome |
| Short Chain Acyl CoA Dehydrogenase Deficiency |
| Short QT Syndrome |
| SHORT Syndrome |
| Shprintzen Goldberg Syndrome |
| Shwachman Diamond Syndrome |
| Sialadenitis |
| Sialidosis |
| Sickle Cell Disease |
| Simian B Virus Infection |
| Simple Pulmonary Eosinophilia |
| Simpson-Golabi-Behmel Syndrome |
| Singleton Merten syndrome |
| Sinonasal Undifferentiated Carcinoma |
| Sirenomelia |
| Sitosterolemia |
| Sjögren-Larsson Syndrome |
| SLC13A5 Citrate Transporter Disorder |
| SLC6A1 Epileptic Encephalopathy |
| Small Cell Lung Cancer |
| Smallpox |
| Smith Magenis Syndrome |
| Smith-Kingsmore Syndrome |
| Smith-Lemli-Opitz Syndrome |
| Sneddon Syndrome |
| Snyder-Robinson Syndrome |
| Soft Tissue Sarcoma |
| Sotos Syndrome |
| Spastic Paraplegia 47 |
| Spastic Paraplegia 50 |
| Spastic Paraplegia 51 |
| Spastic Paraplegia 52 |
| Sphingosine Phosphate Lyase Insufficiency Syndrome |
| Spina Bifida |
| Spinal Muscular Atrophy |
| Spinal Muscular Atrophy with Respiratory Distress Type 1 |
| Spinocerebellar Ataxia with Axonal Neuropathy |
| Split Hand/Split Foot Malformation |
| Spondylocostal Dysplasia |
| Spondyloepiphyseal Dysplasia Tarda |
| Spondyloepiphyseal Dysplasia, Congenital |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
| 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 |
| Stomach Cancer |
| Sturge Weber Syndrome |
| Stuve-Wiedemann Syndrome |
| STXBP1 Disorders |
| Subacute Cerebellar Degeneration |
| Subacute Sclerosing Panencephalitis |
| Succinic Semialdehyde Dehydrogenase Deficiency |
| Sudden Infant Death Syndrome |
| Sudden Unexplained Death in Childhood |
| Superficial Siderosis |
| Superior Mesenteric Artery Syndrome |
| Superior Semicircular Canal Dehiscence |
| Susac Syndrome |
| Sutton Disease II |
| Sweet Syndrome |
| Swyer syndrome |
| Sydenham Chorea |
| SYNCRIP-Related Neurodevelopmental Disorder |
| SYNGAP1-related NSID |
| Syphilis, Acquired |
| Syringobulbia |
| Syringomyelia |
| Systemic Capillary Leak Syndrome |
| Systemic Primary Carnitine Deficiency |
| Systemic Scleroderma |
T
| Takotsubo Cardiomyopathy |
| TANC2-Related Disorders |
| Tangier Disease |
| TANGO2 Deficiency Disorder |
| Tardive Dyskinesia |
| Tarlov Cysts |
| Tarsal Carpal Coalition Syndrome |
| Tarsal Tunnel Syndrome |
| Tatton Brown Rahman Syndrome |
| Tay Sachs Disease |
| TCF7L2-Related Neurodevelopmental Disorder |
| Tenosynovial Giant Cell Tumor |
| Testicular Cancer |
| Tethered Cord Syndrome |
| Tetrahydrobiopterin Deficiency |
| Tetralogy of Fallot |
| Tetrasomy 9p |
| Thoracic Outlet Syndrome |
| Three M Syndrome |
| Thrombocytopenia Absent Radius Syndrome |
| Thrombotic Thrombocytopenic Purpura |
| Thymidine Kinase 2 Deficiency |
| Thyroid Cancer |
| Thyroid Eye Disease |
| Tietze Syndrome |
| Timothy Syndrome |
| Tinnitus |
| TLK2-Related Neurodevelopmental Disorder |
| Tolosa Hunt Syndrome |
| Tongue Cancer |
| Tongue, Hairy |
| Tooth Agenesis |
| Tooth and Nail Syndrome |
| TORCH Syndrome |
| Townes-Brocks Syndrome |
| Toxic Shock Syndrome |
| Tracheobronchomalacia |
| Transverse Myelitis |
| Treacher Collins Syndrome |
| Tricho Dento Osseous Syndrome |
| Trichorhinophalangeal Syndrome Type I |
| Trichorhinophalangeal Syndrome Type II |
| Trichothiodystrophy |
| Trigeminal Neuralgia |
| Trigeminal Trophic Syndrome |
| Trimethylaminuria |
| Triosephosphate Isomerase Deficiency |
| Triploidy |
| Trismus-Pseudocamptodactyly Syndrome |
| Trisomy 13 Syndrome |
| Trisomy 18 |
| Trisomy 9p (Multiple Variants) |
| TRMU Deficiency |
| Tropical Sprue |
| TRPM3-Related Neurodevelopmental Disorder |
| Truncus Arteriosus |
| Tuberculosis |
| Tuberous Sclerosis |
| Tularemia |
| Tumor Necrosis Factor Receptor-Associated Periodic Syndrome |
| Turcot Syndrome |
| Turner Syndrome |
| Turner-Type X-Linked Syndromic Intellectual Developmental Disorder |
| Twin Anemia Polycythemia Sequence |
| Twin-Twin Transfusion Syndrome |
| Typhoid |
| Tyrosine Hydroxylase Deficiency |
| Tyrosinemia Type 1 |
U
| UGDH-Related Disorder |
| Ulcerative Colitis |
| Urachal Cancer |
| Urofacial Syndrome |
| Urothelial carcinoma of the renal pelvis and ureter |
| Urticaria, Cold |
| Urticaria, Papular |
| Urticaria, Physical |
| Usher Syndrome |
| USP7-Related Diseases |
| Uterine Leiomyosarcoma |
V
| 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) |
| Visual Snow Syndrome |
| Vitamin D Deficiency Rickets |
| Vogt-Koyanagi-Harada Disease |
| Von Hippel-Lindau Disease |
W
| Waardenburg Syndrome |
| WAGR Syndrome/11p Deletion Syndrome |
| Waldenström Macroglobulinemia |
| Walker Warburg Syndrome |
| Wandering Spleen |
| Warburg Micro Syndrome |
| Warm Autoimmune Hemolytic Anemia |
| WAS Related Disorders |
| WDR26-Related Disorder |
| Weaver Syndrome |
| Weil Syndrome |
| Weill Marchesani Syndrome |
| Weismann-Netter-Stuhl Syndrome |
| Werner Syndrome |
| Wernicke-Korsakoff Syndrome |
| West Nile Encephalitis |
| West Syndrome |
| WHIM Syndrome |
| Whipple Disease |
| White-Sutton Syndrome |
| Wieacker Syndrome |
| Wiedemann-Rautenstrauch Syndrome |
| Wiedemann-Steiner Syndrome |
| Wildervanck Syndrome |
| Williams Syndrome |
| Wilms’ Tumor |
| Wilson Disease |
| Winchester Syndrome |
| WNT4 Deficiency |
| Wolf-Hirschhorn Syndrome |
| Wolfram Syndrome |
| Wolman Disease |
| Wyburn-Mason Syndrome |
X
| X linked Lymphoproliferative Syndrome |
| X-Linked Adrenoleukodystrophy |
| X-Linked Myopathy with Excessive Autophagy |
| X-Linked Myotubular Myopathy |
| X-linked Opitz G/BBB Syndrome |
| X-Linked Protoporphyria |
| X-linked Retinoschisis |
| Xeroderma Pigmentosum |
| XYY Syndrome |
Y
| Yaws |
| Yellow Fever |
| Yellow Nail syndrome |
| Yunis Varon Syndrome |
Z
| ZC4H2-Associated Rare Disorders (ZARD) |
| Zellweger Spectrum Disorders |
| Zollinger-Ellison Syndrome |
| ZTTK Syndrome |
#
| 47, XXX (Trisomy X) |
| 47, XXY (Klinefelter Syndrome) |
| 48, XXYY Syndrome |
| 5,10 – Methenyltetrahydrofolate Synthetase Deficiency |
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