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Rare Disorders (127)

Categories:

Aarskog Syndrome@ (4)

Aase Syndrome@ (3)

Abetalipoproteinemia@ (1)

Ablepharon-Macrostomia Syndrome@ (3)

Adie Syndrome@ (4)

Adrenoleukodystrophy@ (5)

Agnosia (7)

Aicardi Syndrome (6)

Alagille Syndrome@ (8)

AlstrÃ¶m Syndrome (3)

Alternating Hemiplegia@ (3)

Apert Syndrome@ (10)

Arthrogryposis@ (55)

Ataxia@ (8)

Bardet-Biedl Syndrome@ (4)

Barth Syndrome (4)

Behcet's Syndrome@ (6)

Blastomycosis@ (5)

Botulism@ (16)

Celiac@ (47)

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@ (4)

Crigler-Najjar Syndrome@ (6)

Cyclic Vomiting Syndrome@ (4)

Cystinosis (8)

Dandy Walker Syndrome@ (2)

Degos (4)

Dercum Disease@ (13)

DiGeorge Syndrome@ (4)

Dubowitz Syndrome@ (3)

Dystonia@ (22)

Ehlers-Danlos Syndrome@ (29)

Erythromelalgia (4)

Fabry's@ (9)

Familial Dysautonomia@ (9)

Fanconi Anemia@ (12)

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@ (2)

Hemophilia@ (27)

Hereditary Angioedema@ (6)

Hidradenitis Suppurativa@ (13)

Homocystinuria@ (2)

Horner Syndrome@ (3)

Huntington's@ (27)

Hydrocephalus@ (33)

Idiopathic Pulmonary Hemosiderosis@ (4)

Incontinentia Pigmenti@ (7)

Isaacs Syndrome@ (3)

Jacobsen Syndrome (1)

Joubert Syndrome@ (6)

Kearns Sayre Syndrome@ (2)

Kernicterus@ (3)

Klippel-Feil Syndrome@ (7)

Kluver-Bucy Syndrome@ (3)

Laurence-Moon Syndrome@ (2)

Leigh's@ (3)

Lesch-Nyhan Syndrome@ (1)

Lissencephaly@ (4)

Lowe Syndrome@ (2)

Lowe Syndrome@ (2)

Madelung's@ (8)

Mannosidosis@ (2)

Marfan Syndrome@ (25)

Mastocytosis@ (376)

Meige Syndrome@ (3)

Melorheostosis (1)

Mobius Syndrome@ (5)

Moyamoya (7)

Multiple Hereditary Exostoses@ (5)

Myotonic Dystrophy@ (4)

Nail Patella Syndrome@ (5)

Narcolepsy@ (17)

Neurofibromatosis@ (17)

Neuroleptic Malignant Syndrome@ (5)

Niemann-Pick@ (4)

Noonan Syndrome@ (6)

Olivopontocerebellar Atrophy@ (3)

Ollier Disease (1)

Opitz Syndrome@ (6)

Osteogenesis Imperfecta@ (12)

POEMS Syndrome@ (2)

Pallister Killian Mosaic Syndrome@ (1)

Pallister-Hall Syndrome@ (3)

Pemphigoid (1)

Pemphigus (6)

Phenylketonuria (9)

Pick Disease of the Brain@ (4)

Pierre Robin Syndrome (4)

Porencephaly@ (4)

Porphyrias@ (14)

Prader-Willi Syndrome@ (7)

Progeria (10)

Propionic Acidemia@ (5)

Proteus Syndrome@ (5)

Prune Belly Syndrome@ (2)

Pseudoxanthoma Elasticum@ (5)

Refsum's@ (3)

Retinoblastoma@ (28)

Rett's Syndrome@ (18)

Rickets@ (11)

Robinow Syndrome@ (4)

Rubinstein-Taybi Syndrome (4)

Russell Silver Syndrome@ (2)

Sanfilippo Syndrome@ (7)

Schizencephaly@ (1)

Shwachman Syndrome@ (7)

Smith Lemli Opitz Syndrome@ (3)

Smith-Magenis Syndrome@ (3)

Spina Bifida@ (30)

Stickler's Syndrome@ (4)

Stiff-Person Syndrome@ (4)

Sturge-Weber Syndrome@ (4)

Subacute Sclerosing Panencephalitis@ (2)

Tangier@ (2)

Tay-Sachs@ (3)

Thalassemia@ (20)

Thrombocytopenia Absent Radius Syndrome@ (3)

Tourette Syndrome@ (50)

Treacher Collins Syndrome@ (4)

Trichothiodystrophy@ (9)

Tuberous Sclerosis@ (11)

Turner Syndrome@ (11)

Tyrosinemia (2)

Usher Syndrome@ (2)

VACTERL Association (19)

Velo-Cardio-Facial Syndrome@ (5)

WAGR Syndrome@ (4)

Waardenburg Syndrome@ (1)

Weaver Syndrome@ (1)

Wegener's Granulomatosis (10)

Williams Syndrome@ (17)

Wilson's Disease@ (11)

Xeroderma Pigmentosum@ (6)

Zellweger Syndrome@ (7)

Zollinger-Ellison Syndrome@ (4)

See Also:

Top/Health/Conditions and Diseases/Genetic Disorders

Featured Links:

http://www.rarediseases.org/

Editor's Pick

National Organization for Rare Disorders, Inc.

Editor's Pick

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/

Regular Links:

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.
http://www.cherubs-cdh.org

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.cafamily.org.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://www.eurordis.org

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://members.cox.net/fdsupport/index.html

http://www.hgfound.org/

Human Growth Foundation

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

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 info and registration forms
http://www.raredis.org/modules/news/

http://digilander.libero.it/camdic/KINDLER.html

Kindler Syndrome

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

http://pweb.netcom.com/~jkbarton/nomid/Html/nomid_home_page.htm

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 suppo
http://pweb.netcom.com/~jkbarton/nomid/Html/nomid_home_page.htm

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.
http://rarediseases.info.nih.gov/

http://www.bh4.org

Tetrahydrobiopterin

Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.
http://www.bh4.org

Last Updated: 2007-06-05 23:59:11