Rare-Disease Database

Did you know? There are as many as seven thousand rare diseases. Below is a list of rare diseases with links to the National Organization for Rare Disorders (NORD). Click on the link to be directed to the NORD site to learn more about each individual disease. The more we know, the more we grow!

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 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 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

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, Hemolytic, Cold Antibody

Anemia, Hereditary Nonspherocytic 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

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

Argininie: Glycine Amidinotransferase Deficiency

Argininosuccinic Aciduria

Aromatic L-Amino Acid Decarboxylase Deficiency

Arterial Tortuosity Syndrome

Arteriovenous Malformation

Arteritis, Takayasu

Arthritis, Infectious

Arthrogryposis Multiplex Congenita

ASAH1-Related Disorders

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 Hypophosphatemic Rickets Type 2

Autosomal Recessive Polycystic Kidney Disease

Babesiosis

Balantidiasis

Baller-Gerold Syndrome

Balo Disease

Banti’s Syndrome

Barakat Syndrome

Bardet-Biedl Syndrome

Barth Syndrome

Bartonellosis

Bartter 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

Bohring-Opitz 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 Deficiency Disorder

Central Core Disease

Central Diabetes Insipidus

Central Pain Syndrome

Centronuclear Myopathy

Cerebellar Agenesis

Cerebellar Degeneration, Subacute

Cerebral Creatine Deficiency Syndromes

Cerebral Folate Deficiency

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

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 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

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

Complete DiGeorge Syndrome

Complex Regional Pain Syndrome

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 Heart Block

Congenital Hepatic Fibrosis

Congenital Hyperinsulinism

Congenital Lactic Acidosis

Congenital Muscular Dystrophy

Congenital Myasthenic Syndromes

Congenital Myopathy

Congenital Plasminogen Deficiency

Congenital Pulmonary Lymphangiectasia

Congenital Sucrase-Isomaltase Deficiency

Congenital Syphilis

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

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 Syndrome

Dengue Fever

Dent Disease

Dentin Dysplasia Type I

Dentin Dysplasia Type II

Dentinogenesis Imperfecta Type III

Denys-Drash Syndrome

Deoxyhypusine Synthase Disorder

Depersonalization Disorder

Dercum’s Disease

Dermatitis Herpetiformis

Dermatomyositis

Desmoid Tumor

Dextrocardia with Situs Inversus

Diamond Blackfan Anemia

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

Esophageal Cancer

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

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

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

Galactosemia

Galloway-Mowat Syndrome

Gastritis, Chronic, Erosive

Gastritis, Giant Hypertrophic

Gastrointestinal Stromal Tumors

Gastroparesis

Gastroschisis

Gaucher Disease

General Myoclonus

Generalized Arterial Calcification of Infancy

Geographic Tongue

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 I

Glycogen Storage Disease Type III

Glycogen Storage Disease Type IX

Glycogen Storage Disease Type V

Glycogen Storage Disease Type VII

GNE Myopathy

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

Guanidinoacetate Methyltransferase Deficiency

Guillain-Barré Syndrome

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

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

Hereditary Spherocytosis

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, Lamellar

Ichthyosis, Netherton Syndrome

Ichthyosis, X Linked

Idiopathic Intracranial Hypertension

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

KCNB1 Encephalopathy

KCNK9 Imprinting Syndrome

KCNQ2 Encephalopathy

Kearns Sayre Syndrome

Kennedy Disease

Kenny-Caffey Syndrome

Keratitis Ichthyosis Deafness Syndrome

Keratoconus

Keratomalacia

Keratosis Follicularis

Keratosis Follicularis Spinulosa Decalvans

Keratosis, Seborrheic

Kernicterus

Kienböck Disease

KIF1A-Related Disorder

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

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

Mevalonate Kinase Deficiency

Microvillus Inclusion Disease

Mikulicz Syndrome

Miller Fisher 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

Myasthenia Gravis

Mycosis Fungoides

Myelodysplastic Syndromes

Myhre Syndrome

Myocarditis

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 Cholestasis

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

Neurotrophic Keratitis

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 Albinism

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

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

Ovarian Cancer

Ovotesticular Disorder of Sex Development

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)

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

Partial Androgen Insensitivity Syndrome

Pediatric Cardiomyopathy

Pediatric Crohn’s Disease

Pediatric Non-Small Cell Lung Cancer

Peeling Skin Syndrome

Pelizaeus Merzbacher disease

Pemphigus and Pemphigoid

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 and Necrotizing Myopathy

Pompe Disease

Pontocerebellar Hypoplasia

Porphyria

Porphyria Cutanea Tarda

Post Polio Syndrome

Post-Transplant Lymphoproliferative Disease

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 Mitochondrial Myopathies

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 Erythrokeratoderma

Prolactinoma

Propionic Acidemia

Protein C Deficiency

Protein S 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

Refractory Celiac Disease

Refsum Disease

Relapsing Polychondritis

Renal Agenesis, Bilateral

Renal Cell Carcinoma

Renal Glycosuria

Renal Medullary Carcinoma

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

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

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

SLC6A1 Epileptic Encephalopathy

Small Cell Lung Cancer

Smallpox

Smith Lemli Opitz Syndrome

Smith Magenis Syndrome

Sneddon Syndrome

Snyder-Robinson Syndrome

Soft Tissue Sarcoma

Sotos Syndrome

Spastic Paraplegia 47

Spastic Paraplegia 50

Spastic Paraplegia 51

Spastic Paraplegia 52

Spina Bifida

Spinal Muscular Atrophy

Spinal Muscular Atrophy with Respiratory Distress

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

Stomach Cancer

Sturge Weber Syndrome

Stuve-Wiedemann Syndrome

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

SYNGAP1-related NSID

Syphilis, Acquired

Syringobulbia

Syringomyelia

Systemic Capillary Leak Syndrome

Systemic Primary Carnitine Deficiency

Systemic Scleroderma

Takotsubo Cardiomyopathy

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

Thyroid Eye Disease

Tietze Syndrome

Timothy Syndrome

Tinnitus

Tolosa Hunt Syndrome

Tongue Cancer

Tongue, Hairy

Tooth Agenesis

Tooth and Nail Syndrome

TORCH 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

Trichothiodystrophy

Trichotillomania

Trigeminal Neuralgia

Trimethylaminuria

Triosephosphate Isomerase Deficiency

Triploidy

Trismus-Pseudocamptodactyly Syndrome

Trisomy 13 Syndrome

Trisomy 18

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

Vitamin D Deficiency Rickets

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 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

Yaws

Yellow Fever

Yellow Nail syndrome

Yunis Varon Syndrome

Zellweger Spectrum Disorders

Zollinger-Ellison Syndrome

Source: National Organization for Rare Disorders (NORD), https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/