A-Z List of Rare Diseases in Humans

Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2020/06/09 - Updated: 2022/09/11
Topic: Disability and Health Lists - Publications List

Page Content: Synopsis - Introduction - Main

Synopsis: Information includes a list of rare diseases and the definition of the term orphan disease, which is sometimes used as a synonym for rare disease. The European Union (EU) defines rare diseases as conditions that affect less than 1 in 2,000 people, but many are much rarer.

Introduction

Defining Rare Diseases

The term orphan disease is sometimes used as a synonym for rare disease. Most genetic disorders are rare diseases, but not all rare diseases are caused by genetic factors. There are approximately 7,000 rare diseases (RD). Rare diseases include, some very rare infectious diseases, rare forms of autoimmune disorders, and rare cancers. Global Genes estimates over 300 million people worldwide are living with a rare disease. On average 1 in 17 people will be affected by a rare disease at some point during their lives.

Main Item

There is no single, widely accepted definition for rare diseases. Some definitions are based on the number of people living with a disease, and other definitions include factors, such as existence of adequate treatment(s) or the severity of the disease. Rare disease definitions used in medical literature and by national health plans are divided, with definitions ranging from 1 in 1,000 people to 1 in 200,000 people.

• United States: In the United States (US), a rare disease is defined as one that affects fewer than 200,000 people. This definition was created by United States Congress in the Orphan Drug Act (ODA) of 1983. Before the passage of rare disease laws in the United States, patients diagnosed with a rare disease were denied access to effective medicines because prescription drug manufacturers rarely could make a profit from marketing drugs to such small groups. The total number of Americans living with a rare disease is currently estimated at between 25-30 million. While individual diseases may be rare, the total number of people with a rare disease is large.
• Canada: According to the Canadian Organization for Rare Diseases (CORD), rare diseases affect one in 12 Canadians (two-thirds of whom are children). That represents approximately 3 million Canadians and their families facing a debilitating disease that severely impacts their lives, making finding treatments for them a serious public health concern for the country.
• European Union (EU): The EU defines rare diseases as conditions that affect less than 1 in 2,000 people, but many are much rarer. The EU Orphan Regulation No 141/2000 (Dec 1999), defines an rare disease as a condition with a prevalence in the EU of 5 in 10,000 people (or fewer).
• Japan: In Japan, the legal definition of a rare disease, JPN Pharmaceutical Orphan Drug Law (Oct 1993), is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.

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Rare Disease Awareness Day is held globally on February 29 - February 28 on non-leap years. The awareness day was originally started by the European Organization for Rare Diseases and is now recognized globally. The rare disease awareness ribbon is a zebra-striped ribbon.

Incomplete List of Rare Diseases

A

• 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
• Arthritis, Psoriatic
• 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

B

• 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

• 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

D

• 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

E

• 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

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 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

G

• 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

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
• 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

• 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

J

• 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

K

• 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

L

• 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

M

• 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

• 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

O

• 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

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)
• 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

• 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
• 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

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 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

T

• 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

U

• Ulcerative Colitis
• Urachal Cancer
• Urofacial Syndrome
• 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
• Von Willebrand Disease

W

• 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

• 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

• Zellweger Spectrum Disorders
• Zollinger-Ellison Syndrome

Author Credentials: Ian was born and grew up in Australia. Since then, he has traveled and lived in numerous locations and currently resides in Montreal, Canada. Ian is the founder, a writer, and editor in chief for Disabled World. Ian believes in the Social Model of Disability, a belief developed by disabled people in the 1970s. The social model changes the focus away from people's impairments and towards removing barriers that disabled people face daily. To learn more about Ian's background, expertise, and achievements, check out his bio.