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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 (8)
Alström Syndrome (3)
Alternating Hemiplegia (3)
Apert Syndrome (10)
Arthrogryposis (67)
Ataxia (9)
Bardet-Biedl Syndrome (4)
Barth Syndrome (3)
Behcet's Syndrome (9)
Blastomycosis (5)
Botulism (16)
Celiac (61)
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)
Cri du Chat Syndrome (4)
Crigler-Najjar Syndrome (7)
Cyclic Vomiting Syndrome (9)
Cystinosis (8)
Dandy Walker Syndrome (3)
Degos (4)
Dercum Disease (15)
DiGeorge Syndrome (4)
Dubowitz Syndrome (3)
Dystonia (27)
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 (6)
Gaucher's (13)
Gerstmann Syndrome (3)
Glutaricaciduria (3)

Guillain-Barre Syndrome (13)
Gustatory Sweating (2)
Hallervorden-Spatz Syndrome (3)
Hemihypertrophy (3)
Hemophilia (28)
Hereditary Angioedema (6)
Hidradenitis Suppurativa (13)
Homocystinuria (2)
Horner Syndrome (3)
Huntington's (29)
Hydrocephalus (46)
Idiopathic Pulmonary Hemosiderosis (3)
Incontinentia Pigmenti (7)
Isaacs Syndrome (2)
Joubert Syndrome (7)
Kearns Sayre Syndrome (2)
Kernicterus (2)
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 (9)
Mannosidosis (2)
Marfan Syndrome (25)
Mastocytosis (443)
Meige Syndrome (3)
Melorheostosis (1)
Mobius Syndrome (5)
Moyamoya (7)
Multiple Hereditary Exostoses (6)
Myotonic Dystrophy (4)
Nail Patella Syndrome (5)
Narcolepsy (20)
Neurofibromatosis (18)
Neuroleptic Malignant Syndrome (5)
Niemann-Pick (4)
Noonan Syndrome (8)
Olivopontocerebellar Atrophy (3)
Ollier Disease (1)
Opitz Syndrome (5)
Osteogenesis Imperfecta (15)
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 (27)
Rett's Syndrome (20)
Rickets (11)
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 (39)
Stickler's Syndrome (4)
Stiff-Person Syndrome (4)
Sturge-Weber Syndrome (4)
Subacute Sclerosing Panencephalitis (2)
Tangier (2)
Tay-Sachs (4)
Thalassemia (22)
Thrombocytopenia Absent Radius Syndrome (3)
Tourette Syndrome (58)
Treacher Collins Syndrome (4)
Trichothiodystrophy (9)
Triploidy (3)
Tuberous Sclerosis (12)
Turner Syndrome (13)
Tyrosinemia (2)
Usher Syndrome (2)
VACTERL Association (19)
Velo-Cardio-Facial Syndrome (5)
Waardenburg Syndrome (2)
WAGR Syndrome (3)
Weaver Syndrome (2)
Wegener's Granulomatosis (8)
Williams Syndrome (18)
Wilson's Disease (11)
Xeroderma Pigmentosum (6)
Zellweger Syndrome (7)
Zollinger-Ellison Syndrome (4)

Related Category:
Health > Conditions and Diseases > Genetic Disorders (933)

Web Pages

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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.

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.

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.

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

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

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

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

National Organization for Rare Disorders, Inc. - http://www.rarediseases.org/
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.

Office of Rare Diseases - http://rarediseases.info.nih.gov/
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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