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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@ (68)
Ataxia@ (8)
Bardet-Biedl Syndrome@ (4)
Barth Syndrome (4)
Behcet's Syndrome@ (9)
Blastomycosis@ (5)
Botulism@ (16)
Celiac@ (57)
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@ (10)
Cystinosis (8)
Dandy Walker Syndrome@ (3)
Degos (4)
Dercum Disease@ (15)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (25)
Ehlers-Danlos Syndrome@ (29)
Erythromelalgia (3)
Fabry's@ (9)
Familial Dysautonomia@ (9)
Fanconi Anemia@ (13)
Fibrodysplasia Ossificans Progressiva@ (3)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (13)
Galactosemia@ (6)
Gaucher's@ (13)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (3)
Guillain-Barre Syndrome@ (12)
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@ (44)
Idiopathic Pulmonary Hemosiderosis@ (3)
Incontinentia Pigmenti@ (7)
Isaacs Syndrome@ (2)
Jacobsen Syndrome (0)
Joubert Syndrome@ (6)
Kearns Sayre Syndrome@ (2)
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@ (8)
Mannosidosis@ (2)
Marfan Syndrome@ (26)
Mastocytosis@ (388)
Meige Syndrome@ (3)
Melorheostosis (1)
Mobius Syndrome@ (5)
Moyamoya (7)
Multiple Hereditary Exostoses@ (6)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome@ (5)
Narcolepsy@ (20)
Neurofibromatosis@ (17)
Neuroleptic Malignant Syndrome@ (5)
Niemann-Pick@ (4)
Noonan Syndrome@ (8)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (1)
Opitz Syndrome@ (5)
Osteogenesis Imperfecta@ (14)
Pallister Killian Mosaic Syndrome@ (9)
Pallister-Hall Syndrome@ (3)
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@ (10)
Progeria (11)
Propionic Acidemia@ (5)
Proteus Syndrome@ (5)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (5)
Refsum's@ (3)
Retinoblastoma@ (28)
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 Lemli Opitz Syndrome@ (3)
Smith-Magenis Syndrome@ (3)
Spina Bifida@ (34)
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@ (56)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy@ (10)
Triploidy (3)
Tuberous Sclerosis@ (12)
Turner Syndrome@ (13)
Tyrosinemia (2)
Usher Syndrome@ (2)
VACTERL Association (18)
Velo-Cardio-Facial Syndrome@ (5)
Waardenburg Syndrome@ (2)
WAGR Syndrome@ (4)
Weaver Syndrome@ (2)
Wegener's Granulomatosis (8)
Williams Syndrome@ (18)
Wilson's Disease@ (11)
Xeroderma Pigmentosum@ (6)
Zellweger Syndrome@ (7)
Zollinger-Ellison Syndrome@ (4)

See also:

Health: Conditions and Diseases: Genetic Disorders (717)

This category in other languages:

French (41) Italian (28) Japanese (13)

» 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.

» 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.

» 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.

» 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 information and registration forms

» Kindler Syndrome - An article and case study of this rare disease. Includes links.

» 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.