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Aarskog Syndrome@ (4)
Aase Syndrome@ (3)
Abetalipoproteinemia@ (1)
Ablepharon-Macrostomia Syndrome@ (3)
Adie Syndrome@ (3)
Adrenoleukodystrophy@ (4)
Agnosia (3)
Aicardi Syndrome (6)
Alagille Syndrome@ (4)
Alström Syndrome (3)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (10)
Arthrogryposis@ (27)
Ataxia@ (6)
Bardet-Biedl Syndrome@ (3)
Barth Syndrome (3)
Behcet's Syndrome@ (6)
Blastomycosis@ (5)
Botulism@ (14)
Celiac@ (53)
Cerebrocostomandibular Syndrome (2)
Charcot-Marie-Tooth Disease@ (7)
Cleidocranial Dysplasia (3)
Cockayne Syndrome@ (3)
Coffin Lowry Syndrome@ (4)
Cornelia De Lange Syndrome@ (2)
Corticobasal Degeneration@ (3)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (3)
Crigler-Najjar Syndrome@ (6)
Cyclic Vomiting Syndrome@ (3)
Cystinosis (6)
Dandy Walker Syndrome@ (2)
Degos (4)
Dercum Disease@ (14)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (20)
Ehlers-Danlos Syndrome@ (24)
Erythromelalgia (3)
Fabry's@ (8)
Familial Dysautonomia@ (7)
Fanconi Anemia@ (14)
Fibrodysplasia Ossificans Progressiva@ (3)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (12)
Galactosemia@ (4)
Gaucher's@ (7)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (2)
Goldenhar Syndrome@ (3)
Guillain-Barre Syndrome@ (12)
Gustatory Sweating@ (2)
Hallervorden-Spatz Syndrome@ (2)
Hemihypertrophy@ (2)
Hemophilia@ (19)
Hereditary Angioedema@ (6)
Hidradenitis Suppurativa@ (10)
Homocystinuria@ (2)
Horner Syndrome@ (1)
Huntington's@ (26)
Hydrocephalus@ (35)
Idiopathic Pulmonary Hemosiderosis@ (3)
Incontinentia Pigmenti@ (5)
Isaacs Syndrome@ (2)
Jacobsen Syndrome (0)
Joubert Syndrome@ (6)
Kearns Sayre Syndrome@ (2)
Kernicterus@ (1)
Klippel-Feil Syndrome@ (6)
Kluver-Bucy Syndrome@ (2)
Laurence-Moon Syndrome@ (3)
Leigh's@ (3)
Lesch-Nyhan Syndrome@ (1)
Lissencephaly@ (3)
Lowe Syndrome@ (2)

Madelung's@ (9)
Mannosidosis@ (2)
Marfan Syndrome@ (20)
Mastocytosis@ (323)
Meige Syndrome@ (2)
Melorheostosis (1)
Mobius Syndrome@ (2)
Moyamoya (6)
Multiple Hereditary Exostoses@ (6)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome@ (3)
Narcolepsy@ (16)
Neurofibromatosis@ (13)
Neuroleptic Malignant Syndrome@ (5)
Niemann-Pick@ (4)
Noonan Syndrome@ (7)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (1)
Opitz Syndrome@ (4)
Osteogenesis Imperfecta@ (12)
Pallister Killian Mosaic Syndrome@ (8)
Pallister-Hall Syndrome@ (3)
Parry-Rombergs Syndrome@ (9)
Pemphigoid (1)
Pemphigus (5)
Phenylketonuria (8)
Pick Disease of the Brain@ (4)
Pierre Robin Syndrome (4)
POEMS Syndrome@ (2)
Porencephaly@ (3)
Porphyrias@ (14)
Prader-Willi Syndrome@ (6)
Progeria (9)
Propionic Acidemia@ (5)
Proteus Syndrome@ (4)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (5)
Refsum's@ (2)
Retinoblastoma@ (20)
Rett's Syndrome@ (15)
Rickets@ (9)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (6)
Russell Silver Syndrome@ (3)
Sanfilippo Syndrome@ (6)
Schizencephaly@ (1)
Shwachman Syndrome@ (7)
Smith Lemli Opitz Syndrome@ (3)
Smith-Magenis Syndrome@ (3)
Spina Bifida@ (29)
Stickler's Syndrome@ (3)
Stiff-Person Syndrome@ (3)
Sturge-Weber Syndrome@ (3)
Subacute Sclerosing Panencephalitis@ (2)
Tangier@ (2)
Tay-Sachs@ (4)
Thalassemia@ (20)
Thrombocytopenia Absent Radius Syndrome@ (2)
Tourette Syndrome@ (47)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy@ (10)
Triploidy (2)
Tuberous Sclerosis@ (11)
Turner Syndrome@ (12)
Tyrosinemia (1)
Usher Syndrome@ (10)
VACTERL Association (15)
Velo-Cardio-Facial Syndrome@ (5)
Waardenburg Syndrome@ (2)
WAGR Syndrome@ (3)
Weaver Syndrome@ (2)
Wegener's Granulomatosis (9)
Williams Syndrome@ (18)
Wilson's Disease@ (9)
Xeroderma Pigmentosum@ (6)
Zellweger Syndrome@ (4)
Zollinger-Ellison Syndrome@ (3)

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Health: Conditions and Diseases: Genetic Disorders (596)

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» http://www.rarediseases.org/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.

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

» http://www.cafamily.org.uk Contact a Family - 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.eurordis.org European Organisation for Rare Diseases - Alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe.

» http://members.cox.net/fdsupport/index.html Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.

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

» http://www.raredis.org/modules/news/Information Centre for Rare Diseases and Orphan Drugs - Offers an Internet portal. Includes news, forums, rare disease and orphan drug information and registration forms

» http://digilander.libero.it/camdic/KINDLER.html Kindler Syndrome - An article and case study of this rare disease. Includes links.

» http://rarediseases.info.nih.gov/Office of Rare Diseases - Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

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