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Aarskog Syndrome@ (4)
Aase Syndrome@ (2)
Abetalipoproteinemia@ (1)
Ablepharon-Macrostomia Syndrome@ (3)
Adie Syndrome@ (4)
Adrenoleukodystrophy@ (5)
Agnosia (7)
Aicardi Syndrome (7)
Alagille Syndrome@ (8)
Alström Syndrome (3)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (10)
Arthrogryposis@ (69)
Ataxia@ (8)
Bardet-Biedl Syndrome@ (4)
Barth Syndrome (4)
Behcet's Syndrome@ (9)
Blastomycosis@ (5)
Botulism@ (17)
Celiac@ (46)
Cerebrocostomandibular Syndrome (2)
Charcot-Marie-Tooth Disease@ (7)
Cleidocranial Dysplasia (3)
Cockayne Syndrome@ (3)
Coffin Lowry Syndrome@ (4)
Cornelia De Lange Syndrome@ (3)
Corticobasal Degeneration@ (3)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (5)
Crigler-Najjar Syndrome@ (7)
Cyclic Vomiting Syndrome@ (10)
Cystinosis (8)
Dandy Walker Syndrome@ (3)
Degos (4)
Dercum Disease@ (15)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (24)
Ehlers-Danlos Syndrome@ (29)
Erythromelalgia (4)
Fabry's@ (9)
Familial Dysautonomia@ (9)
Fanconi Anemia@ (15)
Fibrodysplasia Ossificans Progressiva@ (3)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (13)
Galactosemia@ (6)
Gaucher's@ (11)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (3)
Guillain-Barre Syndrome@ (11)
Gustatory Sweating@ (2)
Hallervorden-Spatz Syndrome@ (4)
Hemihypertrophy@ (3)
Hemophilia@ (30)
Hereditary Angioedema@ (6)
Hidradenitis Suppurativa@ (13)
Homocystinuria@ (2)
Horner Syndrome@ (4)
Huntington's@ (27)
Hydrocephalus@ (42)
Idiopathic Pulmonary Hemosiderosis@ (4)
Incontinentia Pigmenti@ (7)
Isaacs Syndrome@ (3)
Jacobsen Syndrome (1)
Joubert Syndrome@ (7)
Kearns Sayre Syndrome@ (2)
Kernicterus@ (3)
Klippel-Feil Syndrome@ (7)
Kluver-Bucy Syndrome@ (3)
Laurence-Moon Syndrome@ (2)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (1)
Lissencephaly@ (5)
Lowe Syndrome@ (2)
Madelung's@ (8)
Mannosidosis@ (2)
Marfan Syndrome@ (27)
Mastocytosis@ (42 384)
Meige Syndrome@ (3)
Melorheostosis (1)
Mobius Syndrome@ (5)
Moyamoya (7)
Multiple Hereditary Exostoses@ (7)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome@ (5)
Narcolepsy@ (20)
Neurofibromatosis@ (17)
Neuroleptic Malignant Syndrome@ (5)
Niemann-Pick@ (4)
Noonan Syndrome@ (7)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (1)
Opitz Syndrome@ (6)
Osteogenesis Imperfecta@ (13)
POEMS Syndrome@ (2)
Pallister-Hall Syndrome@ (3)
Pallister Killian Mosaic Syndrome@ (1)
Pemphigoid (1)
Pemphigus (6)
Phenylketonuria (9)
Pick Disease of the Brain@ (4)
Pierre Robin Syndrome (4)
Porencephaly@ (4)
Porphyrias@ (14)
Prader-Willi Syndrome@ (8)
Progeria (10)
Propionic Acidemia@ (5)
Proteus Syndrome@ (5)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (5)
Refsum's@ (3)
Retinoblastoma@ (30)
Rett's Syndrome@ (20)
Rickets@ (11)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (4)
Russell Silver Syndrome@ (2)
Sanfilippo Syndrome@ (7)
Schizencephaly@ (2)
Shwachman Syndrome@ (7)
Smith-Magenis Syndrome@ (3)
Smith Lemli Opitz Syndrome@ (3)
Spina Bifida@ (35)
Stickler's Syndrome@ (4)
Stiff-Person Syndrome@ (4)
Sturge-Weber Syndrome@ (4)
Subacute Sclerosing Panencephalitis@ (2)
Tangier@ (2)
Tay-Sachs@ (3)
Thalassemia@ (22)
Thrombocytopenia Absent Radius Syndrome@ (3)
Tourette Syndrome@ (56)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy@ (9)
Tuberous Sclerosis@ (12)
Turner Syndrome@ (10)
Tyrosinemia (2)
Usher Syndrome@ (2)
VATER Syndrome (12)
Velo-Cardio-Facial Syndrome@ (5)
WAGR Syndrome@ (4)
Waardenburg Syndrome@ (1)
Weaver Syndrome@ (1)
Wegener's Granulomatosis (10)
Williams Syndrome@ (18)
Wilson's Disease@ (11)
Xeroderma Pigmentosum@ (6)
Zellweger Syndrome@ (7)
Zollinger-Ellison Syndrome@ (3)

 

11 sites in Rare Disorders

National Organization for Rare Disorders, Inc. Save
Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching.
http://www.rarediseases.org/   
Cherubs Save
A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.
http://www.cherubs-cdh.org   
Contact a Family Save
Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK.
http://www.cafamily.org.uk   
European Organisation for Rare Diseases Save
Alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe.
http://www.eurordis.org   
Fibrous Dysplasia Support Online Save
For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.
http://members.cox.net/fdsupport/inde...   
Human Growth Foundation Save
Information about growth-related disorders through education, research, and advocacy. Member driven organization.
http://www.hgfound.org/   
Information Centre for Rare Diseases and Orphan Drugs Save
Offers an Internet portal. Includes news, forums, rare disease and orphan drug info and registration forms
http://www.raredis.org/modules/news/   
Kindler Syndrome Save
An article and case study of this rare disease. Includes links.
http://digilander.libero.it/camdic/KI...   
Nomid /Cinca Save
Resource for parents and patients suffering from Neonatal Onset Multi-inflammatory Disease Chronic, or Infantile, Neurologic, Cutaneous and Articular syndrome. Site maintained by patients, parents and friends for their counterparts worldwide. Email support group at eGroups.
http://pweb.netcom.com/~jkbarton/nomi...   
Office of Rare Diseases Save
Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.
http://rarediseases.info.nih.gov/   
Tetrahydrobiopterin Save
Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.
http://www.bh4.org   
See also
Health: Conditions and Diseases: Genetic Disorders (192 678)

The category Rare Disorders in other languages
French (40)
Italian (29)
Japanese (13)

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