Rare diseases terms are either (1) terms for which information requests have been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases Information Center, or the National Human Genome Research Institute; or (2) diseases that have been suggested as being rare. The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare.
The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. Certain diseases with 200,000 or more affected individuals may be included in this list if certain subpopulations of people who have the disease are equal to the prevalence standard for rare diseases
Acrocephalosyndactylia
Acrodermatitis
Addison Disease
Adie Syndrome
Alagille Syndrome
Amylose
Amyotrophic Lateral Sclerosis
Angelman Syndrome
Angiolymphoid Hyperplasia with Eosinophilia
Arnold-Chiari Malformation
Arthritis, Juvenile Rheumatoid
Asperger Syndrome
Bardet-Biedl Syndrome
Barrett Esophagus
Beckwith-Wiedemann Syndrome
Behcet Syndrome
Bloom Syndrome
Bowen’s Disease
Brachial Plexus Neuropathies
Brown-Sequard Syndrome
Budd-Chiari Syndrome
Burkitt Lymphoma
Carcinoma 256, Walker
Caroli Disease
Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome
Chiari-Frommel Syndrome
Chondrodysplasia Punctata
Colonic Pseudo-Obstruction
Colorectal Neoplasms, Hereditary Nonpolyposis
Craniofacial Dysostosis
Creutzfeldt-Jakob Syndrome
Crohn Disease
Cushing Syndrome
Cystic Fibrosis
Dandy-Walker Syndrome
De Lange Syndrome
Dementia, Vascular
Dermatitis Herpetiformis
DiGeorge Syndrome
Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome
Dupuytren Contracture
Ebstein Anomaly
Eisenmenger Complex
Ellis-Van Creveld Syndrome
Encephalitis
Enchondromatosis
Epidermal Necrolysis, Toxic
Facial Hemiatrophy
Factor XII Deficiency
Fanconi Anemia
Felty’s Syndrome
Fibrous Dysplasia, Polyostotic
Fox-Fordyce Disease
Friedreich Ataxia
Fusobacterium
Gardner Syndrome
Gaucher Disease
Gerstmann Syndrome
Giant Lymph Node Hyperplasia
Glycogen Storage Disease Type I
Glycogen Storage Disease Type II
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VII
Goldenhar Syndrome
Guillain-Barre Syndrome
Hallermann’s Syndrome
Hamartoma Syndrome, Multiple
Hartnup Disease
Hepatolenticular Degeneration
Hepatolenticular Degeneration
Hereditary Sensory and Motor Neuropathy
Hirschsprung Disease
Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-Cell
Hodgkin Disease
Horner Syndrome
Huntington Disease
Hyperaldosteronism
Hyperostosis, Diffuse Idiopathic Skeletal
Hypopituitarism
Inappropriate ADH Syndrome
Intestinal Polyps
Isaacs Syndrome
Kartagener Syndrome
Kearns-Sayre Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Kluver-Bucy Syndrome
Korsakoff Syndrome
Lafora Disease
Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome
Langer-Giedion Syndrome
Leigh Disease
Lesch-Nyhan Syndrome
Leukodystrophy, Globoid Cell
Li-Fraumeni Syndrome
Long QT Syndrome
Machado-Joseph Disease
Mallory-Weiss Syndrome
Marek Disease
Marfan Syndrome
Meckel Diverticulum
Meige Syndrome
Melkersson-Rosenthal Syndrome
Meniere Disease
Mikulicz’ Disease
Miller Fisher Syndrome
Mobius Syndrome
Moyamoya Disease
Mucocutaneous Lymph Node Syndrome
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Multiple Endocrine Neoplasia Type 1
Munchausen Syndrome by Proxy
Muscular Atrophy, Spinal
Neuroaxonal Dystrophies
Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses
Niemann-Pick Diseases
Noonan Syndrome
Optic Atrophies, Hereditary
Osteitis Deformans
Osteochondritis
Osteochondrodysplasias
Osteolysis, Essential
Paget Disease Extramammary
Paget’s Disease, Mammary
Panniculitis, Nodular Nonsuppurative
Papillon-Lefevre Disease
Paralysis
Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial
Penile Induration
Pericarditis, Constrictive
Peroxisomal Disorders
Peutz-Jeghers Syndrome
Pick Disease of the Brain
Pierre Robin Syndrome
Pigmentation Disorders
Pityriasis Lichenoides
Polycystic Ovary Syndrome
Polyendocrinopathies, Autoimmune
Prader-Willi Syndrome
Pupil Disorders
Rett Syndrome
Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease
Sarcoma, Ewing’s
Sjogren’s Syndrome
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophies of Childhood
Sturge-Weber Syndrome
Sweating, Gustatory
Takayasu Arteritis
Tangier Disease
Tay-Sachs Disease
Thromboangiitis Obliterans
Thyroiditis, Autoimmune
Tietze’s Syndrome
Togaviridae Infections
Tolosa-Hunt Syndrome
Tourette Syndrome
Uveomeningoencephalitic Syndrome
Waardenburg’s Syndrome
Wegener Granulomatosis
Weil Disease
Werner Syndrome
Williams Syndrome
Wilms Tumor
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolman Disease
Zellweger Syndrome
Zollinger-Ellison Syndrome
von Willebrand Diseases