LIST OF RARE DISEASES
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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
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
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
Anthrax
Antiphospholipid Syndrome
Antisynthetase Syndrome
Antithrombin Deficiency
Antley Bixler Syndrome
Apert Syndrome
Aplasia Cutis Congenita
Apnea, Infantile
Appendiceal Cancer and Tumors
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
Autoinflammation with Infantile Enterocolitis
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
Albinism
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
Branchiootorenal Spectrum Disorders
Bronchiolitis Obliterans Organizing Pneumonia
Bronchopulmonary Dysplasia
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 Creatine Deficiency Syndromes
Cerebral Palsy
Cerebro Oculo Facio Skeletal Syndrome
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
Cholecystitis
Cholera
Cholesteryl Ester Storage Disease
Chondrocalcinosis 2
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 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
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
Clostridial Myonecrosis
CLOVES Syndrome
Cluster Headache
Coats Disease
Cockayne Syndrome
Coffin Lowry Syndrome
Coffin Siris Syndrome
Cogan Reese Syndrome
Cohen Syndrome
COL4A1/A2-Related Disorders
Collagen Type VI-Related Disorders
Colorado Tick Fever
Common Variable Immune Deficiency
Cone Dystrophy
Congenital Adrenal Hyperplasia
Congenital Afibrinogenemia
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 Sucrase-Isomaltase Deficiency
Congenital Syphilis
Congenital Varicella Syndrome
Conradi Hünermann Syndrome
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
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
Distal Myopathy
Dominant Multiple Epiphyseal Dysplasia
DOOR Syndrome
Dracunculosis
Dravet Syndrome
Duane syndrome
Dubin Johnson Syndrome
Dubowitz Syndrome
Duchenne Muscular Dystrophy
Duodenal Atresia or Stenosis
Dup15q Syndrome
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
Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
Erdheim Chester Disease
Erysipelas
Erythema Multiforme
Erythrokeratodermia with Ataxia
Erythromelalgia
Erythropoietic Protoporphyria and X-Linked 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 X 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
Familial Platelet Disorder with Associated Myeloid Malignancy
Fanconi Anemia
Farber’s Disease
Fascioliasis
Fatal Familial Insomnia
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
Fibrolamellar Carcinoma
Fibromuscular Dysplasia
Fibrosing Mediastinitis
Fibrous Dysplasia
Filariasis
Filippi Syndrome
Fitz Hugh Curtis Syndrome
Floating Harbor Syndrome
Focal Dermal Hypoplasia
Focal Segmental Glomerulosclerosis
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
Galactosemia
Galloway-Mowat Syndrome
Gastritis, Chronic, Erosive
Gastritis, Giant Hypertrophic
Gastrointestinal Stromal Tumors
Gastroparesis
Gastroschisis
Gaucher Disease
General Myoclonus
Geographic Tongue
Gerstmann Syndrome
Gerstmann-Sträussler-Scheinker Disease
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
Goblet Cell Carcinoid
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
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
Hashimoto Encephalopathy
Heart Block, Congenital
Heavy Metal Poisoning
Hemimegalencephaly
Hemophagocytic Lymphohistiocytosis
Hemophilia A
Hemophilia B
Henoch-Schönlein Purpura
Hepatic Encephalopathy
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 Lymphedema
Hereditary Multiple Osteochondromas
Hereditary Neuralgic Amyotrophy
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
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 Syndromes
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, 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
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
KAT6A Syndrome
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-Trenaunay Syndrome
Klüver-Bucy Syndrome
Kniest Dysplasia
Kohler Disease
Kufor Rakeb Syndrome
Kugelberg Welander Syndrome
L1 Syndrome
Laband Syndrome
LADD syndrome
Lambert-Eaton Myasthenic Syndrome
Landau Kleffner Syndrome
Langerhans Cell Histiocytosis
Larsen Syndrome
Laryngeal Dystonia
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
Leprechaunism
Leprosy
Leptospirosis
Leri Pleonosteosis
Leri-Weill Dyschondrosteosis
Lesch Nyhan Syndrome
Leukocyte Adhesion Deficiency Syndromes
Leukodystrophy
Leukodystrophy, Krabbe’s
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Levy-Yeboa Syndrome
Li-Fraumeni Syndrome
Lichen Planus
Lichen Sclerosus
Limb-Girdle Muscular Dystrophies
Liposarcoma
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
Madelung’s Disease
Maffucci Syndrome
Mal de Debarquement
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
Median Arcuate Ligament 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
Merkel Cell Carcinoma
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
Mosaic Trisomy 22
Mosaic Trisomy 9
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
Mucormycosis
Mucous Membrane Pemphigoid
Mulibrey Nanism
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
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 Spectrum Disorder
Neuropathy, Congenital Hypomyelination
Nevoid Basal Cell Carcinoma Syndrome
Nevus Sebaceus Syndrome
New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES)
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
Ocular Melanoma
Ocular Motor Apraxia, Cogan Type
Oculo-Auriculo-Vertebral Spectrum
Oculo-Dento-Digital Dysplasia
Oculocerebral Syndrome with Hypopigmentation
Oculocerebrocutaneous Syndrome
Oculopharyngeal Muscular Dystrophy
Ogilvie syndrome
Olivopontocerebellar Atrophy
Ollier Disease
Opsoclonus-Myoclonus Syndrome
Optic Nerve Hypoplasia
Oral-Facial-Digital Syndrome
Ornithine Transcarbamylase Deficiency
Orocraniodigital Syndrome
Orthostatic Hypotension
OSMED, Heterozygous
OSMED, Homozygous
Osteogenesis Imperfecta
Osteomyelitis
Osteonecrosis
Osteopetrosis
Osteosarcoma
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
PHACE Syndrome
Phelan-McDermid Syndrome
Phenylketonuria
Pheochromocytoma
Phosphoglycerate Kinase Deficiency
Pierre Robin Sequence
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
Pompe Disease
Pontocerebellar Hypoplasia
Porphyria
Porphyria Cutanea Tarda
Post Polio Syndrome
Post-Transplant Lymphoproliferative Disease
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 Hyperparathyroidism
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
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 fever
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
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 Leukoencephalopathy and Systemic Manifestations
Retinitis Pigmentosa
Retinoblastoma
Retinopathy of Prematurity
Retinoschisis
Retroperitoneal Fibrosis
Rett Syndrome
Reye Syndrome
Rheumatic Fever
Riboflavin Transporter Deficiency
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
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 Disorder
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
Small Cell Lung Cancer
Smallpox
Smith Lemli Opitz Syndrome
Smith Magenis Syndrome
Sneddon Syndrome
Snyder-Robinson Syndrome
Soft Tissue Sarcoma
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
Subacute Sclerosing Panencephalitis
Succinic Semialdehyde Dehydrogenase Deficiency
Sudden Infant Death Syndrome
Sudden Unexplained Death in Childhood
Superior Mesenteric Artery Syndrome
Superior Semicircular Canal Dehiscence
Susac 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
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
Tardive Dyskinesia
Tarlov Cysts
Tarsal Tunnel Syndrome
Tay Sachs Disease
Tenosynovial Giant Cell Tumor
Testicular Cancer
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 Agenesis
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 13 Syndrome
Trisomy 18 Syndrome
Trisomy 9p (Multiple Variants)
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
Urachal Cancer
Urofacial Syndrome
Urticaria, Cold
Urticaria, Papular
Urticaria, Physical
Usher Syndrome
USP7-Related Diseases
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)
Visual Snow Syndrome
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
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
Yellow Fever
Yellow Nail syndrome
Yunis Varon Syndrome
Zellweger Spectrum Disorders
Zollinger-Ellison Syndrome
