HON - List of Rare Diseases

List of 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	Hyperhidrosis
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

Narcolepsy	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
Schnitzler Syndrome	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

Others rare diseases or genetic conditions with:

ORPHANET is a database dedicated to information on rare diseases and orphan drugs (available in , , , , and )

National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
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last modified: May 29 2018