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Top: Health: Conditions_and_Diseases: Rare_Disorders:

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Rare Disorders

Aarskog Syndrome@ (4)
Aase Syndrome@ (2)
Abetalipoproteinemia@ (1)
Ablepharon-Macrostomia Syndrome@ (3)
Adie Syndrome@ (4)
Adrenoleukodystrophy@ (6)
Agnosia (5)
Aicardi Syndrome (8)
Alagille Syndrome@ (8)
Alström Syndrome (4)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (10)
Arthrogryposis@ (76)
Ataxia@ (10)
Bardet-Biedl Syndrome@ (5)
Barth Syndrome (4)
Behcet's Syndrome@ (8)
Blastomycosis@ (5)
Botulism@ (18)
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@ (4)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (5)
Crigler-Najjar Syndrome@ (3)
Cyclic Vomiting Syndrome@ (10)
Cystinosis (8)
Dandy Walker Syndrome@ (4)
Degos (4)
Dercum Disease@ (31)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (28)
Ehlers-Danlos Syndrome@ (31)
Erythromelalgia (4)
Fabry's@ (9)
Familial Dysautonomia@ (9)
Fanconi Anemia@ (14)
Fibrodysplasia Ossificans Progressiva@ (3)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (5)
Galactosemia@ (7)
Gaucher's@ (13)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (3)
Guillain-Barre Syndrome@ (13)
Gustatory Sweating@ (2)
Hallervorden-Spatz Syndrome@ (4)
Hemihypertrophy@ (3)
Hemophilia@ (24)
Hereditary Angioedema@ (6)
Hidradenitis Suppurativa@ (17)
Homocystinuria@ (2)
Horner Syndrome@ (4)
Huntington's@ (28)
Hydrocephalus@ (48)
Incontinentia Pigmenti@ (7)
Isaacs Syndrome@ (3)
Jacobsen Syndrome (1)
Joubert Syndrome@ (7)
Kearns Sayre Syndrome@ (3)
Kernicterus@ (3)
Klippel-Feil Syndrome@ (7)
Kluver-Bucy Syndrome@ (3)
Laurence-Moon Syndrome@ (3)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (1)
Lissencephaly@ (6)
Lowe Syndrome@ (2)

Madelung's@ (11)
Mannosidosis@ (2)
Marfan Syndrome@ (31)
Mastocytosis@ (411)
Meige Syndrome@ (4)
Melorheostosis (2)
Mobius Syndrome@ (5)
Moyamoya (7)
Multiple Hereditary Exostoses@ (7)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome@ (5)
Narcolepsy@ (25)
Neurofibromatosis@ (18)
Neuroleptic Malignant Syndrome@ (6)
Niemann-Pick@ (4)
Noonan Syndrome@ (8)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (2)
Opitz Syndrome@ (5)
Osteogenesis Imperfecta@ (15)
Pallister Killian Mosaic Syndrome@ (2)
Pallister-Hall Syndrome@ (3)
Pemphigoid (1)
Pemphigus (6)
Phenylketonuria (9)
Pick Disease of the Brain@ (4)
Pierre Robin Syndrome (4)
POEMS Syndrome@ (2)
Porencephaly@ (4)
Porphyrias@ (15)
Prader-Willi Syndrome@ (11)
Progeria (10)
Propionic Acidemia@ (4)
Proteus Syndrome@ (4)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (3)
Refsum's@ (4)
Retinoblastoma@ (26)
Rett's Syndrome@ (22)
Rickets@ (11)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (3)
Russell Silver Syndrome@ (2)
Sanfilippo Syndrome@ (7)
Schizencephaly@ (2)
Shwachman Syndrome@ (7)
Smith Lemli Opitz Syndrome@ (3)
Smith-Magenis Syndrome@ (3)
Spina Bifida@ (35)
Stickler's Syndrome@ (4)
Stiff-Person Syndrome@ (4)
Sturge-Weber Syndrome@ (4)
Subacute Sclerosing Panencephalitis@ (3)
Tangier@ (2)
Tay-Sachs@ (4)
Thalassemia@ (16)
Thrombocytopenia Absent Radius Syndrome@ (3)
Tourette Syndrome@ (60)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy@ (10)
Tuberous Sclerosis@ (14)
Turner Syndrome@ (10)
Tyrosinemia (3)
Usher Syndrome@ (2)
VATER Syndrome (5)
Velo-Cardio-Facial Syndrome@ (5)
Waardenburg Syndrome@ (2)
WAGR Syndrome@ (4)
Weaver Syndrome@ (3)
Wegener's Granulomatosis (10)
Williams Syndrome@ (9)
Wilson's Disease@ (12)
Xeroderma Pigmentosum@ (7)
Zellweger Syndrome@ (4)
Zollinger-Ellison Syndrome@ (3)

See also:

Health: Conditions and Diseases: Genetic Disorders (623)

This category in other languages:

National Organization for Rare Disorders, Inc. -

Cherubs - - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.
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.
Fibrous Dysplasia Support Online - - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.
Human Growth Foundation - - Information about growth-related disorders through education, research, and advocacy. Member driven organization.
Information Centre for Rare Diseases and Orphan Drugs - - Offers an Internet portal. Includes news, forums, rare disease and orphan drug info and registration form.
Kindler Syndrome - - An article and case study of this rare disease. Includes links.
Lymphangiomatosis and Gorham's Vanishing Bone Disease - - Provides general information and a personal account, including pictures and X-rays. Also offers patient contact and an email discussion group.
Nomid /Cinca - - 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.
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.
Tetrahydrobiopterin - - Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.

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