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Health: Conditions and Diseases: Rare Disorders (122)
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Aarskog Syndrome@ (4)
Aase Syndrome@ (3)
Abetalipoproteinemia@ (1)
Ablepharon-Macrostomia Syndrome@ (4)
Adie Syndrome@ (3)
Adrenoleukodystrophy@ (6)
Agnosia (7)
Aicardi Syndrome (7)
Alagille Syndrome@ (7)
Alström Syndrome (3)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (10)
Arthrogryposis@ (64)
Ataxia@ (8)
Bardet-Biedl Syndrome@ (3)
Barth Syndrome (3)
Behcet's Syndrome@ (9)
Blastomycosis@ (5)
Botulism@ (16)
Celiac@ (56)
Cerebrocostomandibular Syndrome (2)
Charcot-Marie-Tooth Disease@ (7)
Cleidocranial Dysplasia (3)
Cockayne Syndrome@ (3)
Coffin Lowry Syndrome@ (4)
Cornelia De Lange Syndrome@ (4)
Corticobasal Degeneration@ (3)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Crigler-Najjar Syndrome@ (7)
Cri du Chat Syndrome@ (4)
Cyclic Vomiting Syndrome@ (9)
Cystinosis (8)
Dandy Walker Syndrome@ (3)
Degos (4)
Dercum Disease@ (13)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (25)
Ehlers-Danlos Syndrome@ (28)
Erythromelalgia (3)
Fabry's@ (9)
Familial Dysautonomia@ (8)
Fanconi Anemia@ (12)
Fibrodysplasia Ossificans Progressiva@ (3)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (12)
Galactosemia@ (5)
Gaucher's@ (13)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (3)
Guillain-Barre Syndrome@ (12)
Gustatory Sweating@ (2)
Hallervorden-Spatz Syndrome@ (3)
Hemihypertrophy@ (3)
Hemophilia@ (27)
Hereditary Angioedema@ (6)
Hidradenitis Suppurativa@ (12)
Homocystinuria@ (2)
Horner Syndrome@ (2)
Huntington's@ (27)
Hydrocephalus@ (41)
Idiopathic Pulmonary Hemosiderosis@ (3)
Incontinentia Pigmenti@ (7)
Isaacs Syndrome@ (2)
Jacobsen Syndrome (0)
Joubert Syndrome@ (7)
Kearns Sayre Syndrome@ (2)
Kernicterus@ (1)
Klippel-Feil Syndrome@ (7)
Kluver-Bucy Syndrome@ (2)
Laurence-Moon Syndrome@ (3)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (1)
Lissencephaly@ (5)
Lowe Syndrome@ (2)
Madelung's@ (8)
Mannosidosis@ (2)
Marfan Syndrome@ (25)
Mastocytosis@ (377)
Meige Syndrome@ (3)
Melorheostosis (1)
Mobius Syndrome@ (5)
Moyamoya (7)
Multiple Hereditary Exostoses@ (6)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome@ (5)
Narcolepsy@ (20)
Neurofibromatosis@ (16)
Neuroleptic Malignant Syndrome@ (5)
Niemann-Pick@ (4)
Noonan Syndrome@ (8)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (1)
Opitz Syndrome@ (5)
Osteogenesis Imperfecta@ (14)
Pallister-Hall Syndrome@ (3)
Pallister Killian Mosaic Syndrome@ (9)
Pemphigoid (1)
Pemphigus (5)
Phenylketonuria (9)
Pick Disease of the Brain@ (4)
Pierre Robin Syndrome (4)
POEMS Syndrome@ (2)
Porencephaly@ (4)
Porphyrias@ (14)
Prader-Willi Syndrome@ (9)
Progeria (10)
Propionic Acidemia@ (5)
Proteus Syndrome@ (5)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (5)
Refsum's@ (3)
Retinoblastoma@ (24)
Rett's Syndrome@ (19)
Rickets@ (10)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (4)
Russell Silver Syndrome@ (3)
Sanfilippo Syndrome@ (7)
Schizencephaly@ (1)
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@ (4)
Thalassemia@ (21)
Thrombocytopenia Absent Radius Syndrome@ (3)
Tourette Syndrome@ (57)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy@ (10)
Triploidy (3)
Tuberous Sclerosis@ (12)
Turner Syndrome@ (13)
Tyrosinemia (2)
Usher Syndrome@ (2)
VACTERL Association (18)
Velo-Cardio-Facial Syndrome@ (5)
Waardenburg Syndrome@ (2)
WAGR Syndrome@ (3)
Weaver Syndrome@ (2)
Wegener's Granulomatosis (8)
Williams Syndrome@ (17)
Wilson's Disease@ (11)
Xeroderma Pigmentosum@ (6)
Zellweger Syndrome@ (7)
Zollinger-Ellison Syndrome@ (4)
Related Categories

Health: Conditions and Diseases: Genetic Disorders (700)

Web Sites

National Organization for Rare Disorders, Inc. -
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.

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Cherubs - http://www.cherubs-cdh.org
A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.

Status Code: 301 - Location: http://www.cdhsupport.org/
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Contact a Family - http://www.cafamily.org.uk
Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK.

Status Code: 302 - Location: http://www.cafamily.org.uk/index.php?section=861
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European Organisation for Rare Diseases - http://www.eurordis.org
Alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe.

Status Code: 302 - Location: http://www.eurordis.org/secteur.php3?id_rubrique=1
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Fibrous Dysplasia Support Online - http://www.eurordis.org
For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.

Status Code: 200
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Human Growth Foundation - http://www.hgfound.org/
Information about growth-related disorders through education, research, and advocacy. Member driven organization.

Status Code: 200 - Location: http://www.hgfound.org/index.html
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Information Centre for Rare Diseases and Orphan Drugs - http://www.hgfound.org/
Offers an Internet portal. Includes news, forums, rare disease and orphan drug information and registration forms

Status Code: 200
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Kindler Syndrome - http://www.hgfound.org/
An article and case study of this rare disease. Includes links.

Status Code: 200
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Office of Rare Diseases - http://www.hgfound.org/
Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

Status Code: 200
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