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Category Description:
Locate information and organizations that provide educational resources on the symptoms and treatments of various rare diseases.
Aarskog Syndrome@
Aase Syndrome@
Ablepharon-Macrostomia Syndrome@
Adie Syndrome@
Adrenoleukodystrophy@
Aicardi Syndrome@
Alagille Syndrome@
Alfi's Syndrome@
Alkaptonuria@
Alström Syndrome@
Apert Syndrome@
Arthrogryposis@
Bardet-Biedl Syndrome@
Barth Syndrome@
Bloom Syndrome@
Branchio-Oto-Renal Syndrome@
Celiac Disease@
Cerebrocostomandibular Syndrome@
Charcot-Marie-Tooth@
Choroideremia@
Cleidocranial Dysplasia@
Cockayne Syndrome@
Cohen Syndrome@
Congenital Lactase Deficiency@
Corneal Dystrophies@
Cornelia De Lange Syndrome@
Costello Syndrome@
Cowden Syndrome@
Craniofrontonasal Dysplasia@
Cri du Chat Syndrome@
Cystinosis@
DiGeorge Syndrome@
Dubowitz Syndrome@
Dwarfism@
Ehlers-Danlos Syndrome@
Familial Hypercholesterolemia@
Familial Mediterranean Fever@
Fanconi Syndrome@
Friedreich's Ataxia@
Galactosemia@
Gaucher Disease@
Glutaricaciduria I@
Hallervorden-Spatz Syndrome@
Hemochromatosis@
Hereditary Spastic Paraplegia@
Homocystinuria@
Huntington's Disease@
Hydrocephalus@
Incontinentia Pigmenti@
Jacobsen Syndrome@
Klinefelter Syndrome@
Leigh's@
Lymphangioleiomyomatosis@
Menkes' Syndrome@
Mermaid Syndrome@
Mucolipidoses@
Pallister-Hall Syndrome@
Phenylketonuria@
Porphyrias@
Primary Hyperoxaluria@
Progeria@
Proteus Syndrome@
Prune Belly Syndrome@
Pseudoxanthoma Elasticum@
Refsum@
Retinoschisis@
Rett Syndrome@
Rickets@
Robinow Syndrome@
Rubinstein-Taybi Syndrome@
Shwachman Syndrome@
Smith Lemli Opitz Syndrome@
Smith-Magenis Syndrome@
Soto's Syndrome@
Spinal Muscular Atrophy@
Stickler's Syndrome@
Tay-Sachs@
Thalassemia@
Tourette Syndrome@
Treacher Collins Syndrome@
Trichothiodystrophy@
Turner Syndrome@
Tyrosinemia@
Usher Syndrome@
VACTERL Association@
Von Hippel-Lindau Syndrome@
Waardenburg Syndrome@
WAGR Syndrome@
Williams Syndrome@
Wilson's Disease@
Wolf-Hirschhorn Syndrome@
Xeroderma Pigmentosum@
Zellweger Syndrome@
Blogs@
Organizations
About.com: Rare Diseases
- Presents an overview of rare diseases along with articles on getting a diagnosis, medical tests, and applicable drugs.
Cherubs
- Information from the Association of Congenital Diaphragmatic Hernia Research, Advocacy, and Support.
Office of Rare Disease
- Information on scientific activities and a portal providing information on major topics of interest in rare diseases research.
Orphanet
- Portal for rare diseases and orphan drugs. Features an alphabetic disease encyclopedia, plus details of clinical trials, orphan drugs and research links.
Program for Neurodevelopmental Function in Rare Disorders (NFRD)
- University of North Carolina at Chapel Hill program aimed at improving the quality of life of children affected by rare disorders and helping them achieve their full potentials.
Rare Disease Search Engine
- Specialized web search tool focused on information and resources involving rare diseases and related topics.
Rare Disease Therapeutics, Inc.
- Diopharmaceutical specializing in the development, registration, and distribution of orphan disease products.
Rare Diseases Clinical Research Network (RDCRN)
- Network composed of several distinctive consortia collaboratively working to improve the availability of rare disease information, treatment, clinical studies, and general awareness.
Rare Disorders
- Source for information on rare disorders or syndromes including uncommon forms of cancer, heart disease, and stroke. With news and health articles.
RareShare
- Offers disorder-based communities for patients, families, and health care professionals affected by rare disorders.
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