This area contains many subcategories of uncommon types of disorders. Aarskog Syndrome@ (4) Aase Syndrome@ (2) Abetalipoproteinemia@ (1) Ablepharon-Macrostomia Syndrome@ (3) Adie Syndrome@ (4) Adrenoleukodystrophy@ (5) Agnosia (7) Aicardi Syndrome (8) Alagille Syndrome@ (5) Alström Syndrome (4) Alternating Hemiplegia@ (3) Apert Syndrome@ (10) Arthrogryposis@ (72) Ataxia@ (9) Bardet-Biedl Syndrome@ (4) Barth Syndrome (4) Behcet's Syndrome@ (9) Blastomycosis@ (5) Botulism@ (17) Celiac@ (42) 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@ (7) Cyclic Vomiting Syndrome@ (10) Cystinosis (8) Dandy Walker Syndrome@ (3) Degos (4) Dercum Disease@ (29) DiGeorge Syndrome@ (4) Dubowitz Syndrome@ (3) Dystonia@ (26) Ehlers-Danlos Syndrome@ (30) Erythromelalgia (4) Fabry's@ (9) Familial Dysautonomia@ (9) Fanconi Anemia@ (14) Fibrodysplasia Ossificans Progressiva@ (3) Floating-Harbor Syndrome@ (4) Friedreich Ataxia@ (13) Galactosemia@ (7) Gaucher's@ (12) Gerstmann Syndrome@ (3) Glutaricaciduria@ (3) Guillain-Barre Syndrome@ (12) Gustatory Sweating@ (2) Hallervorden-Spatz Syndrome@ (4) Hemihypertrophy@ (3) Hemophilia@ (29) Hereditary Angioedema@ (6) Hidradenitis Suppurativa@ (16) Homocystinuria@ (2) Horner Syndrome@ (4) Huntington's@ (27) Hydrocephalus@ (47) 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@ (5) Lowe Syndrome@ (2) Madelung's@ (11) Mannosidosis@ (2) Marfan Syndrome@ (29) Mastocytosis@ (401) Meige Syndrome@ (3) Mobius Syndrome@ (5) Moyamoya (7) Multiple Hereditary Exostoses@ (7) Myotonic Dystrophy@ (4) Nail Patella Syndrome@ (5) Narcolepsy@ (23) Neurofibromatosis@ (18) Neuroleptic Malignant Syndrome@ (5) Niemann-Pick@ (4) Noonan Syndrome@ (8) Olivopontocerebellar Atrophy@ (3) Ollier Disease (1) Opitz Syndrome@ (6) Osteogenesis Imperfecta@ (14) POEMS Syndrome@ (2) 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) Porencephaly@ (4) Porphyrias@ (14) Prader-Willi Syndrome@ (8) Progeria (10) Propionic Acidemia@ (5) Proteus Syndrome@ (4) Prune Belly Syndrome@ (2) Pseudoxanthoma Elasticum@ (5) Refsum's@ (3) Retinoblastoma@ (30) Rett's Syndrome@ (21) Rickets@ (11) Robinow Syndrome@ (4) Rubinstein-Taybi Syndrome (3) Russell Silver Syndrome@ (2) Sanfilippo Syndrome@ (8) 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@ (2) Tangier@ (2) Tay-Sachs@ (4) Thalassemia@ (23) Thrombocytopenia Absent Radius Syndrome@ (3) Tourette Syndrome@ (57) Treacher Collins Syndrome@ (4) Trichothiodystrophy@ (9) Tuberous Sclerosis@ (13) Turner Syndrome@ (11) Tyrosinemia (3) Usher Syndrome@ (2) VATER Syndrome (7) Velo-Cardio-Facial Syndrome@ (5) WAGR Syndrome@ (4) Waardenburg Syndrome@ (2) Weaver Syndrome@ (2) Wegener's Granulomatosis (10) Williams Syndrome@ (9) Wilson's Disease@ (13) Xeroderma Pigmentosum@ (6) Zellweger Syndrome@ (7) Zollinger-Ellison Syndrome@ (3) 1. Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. 2. 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. 3. 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. 4. 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. 5. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. 6. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. 7. Information Centre for Rare Diseases and Orphan Drugs NEW! - Offers an Internet portal. Includes news, forums, rare disease and orphan drug info and registration forms 8. Kindler Syndrome - An article and case study of this rare disease. Includes links. 9. 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. 10. Tetrahydrobiopterin - Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.

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