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Rare Diseases
About Cystinosis 
This document provides information about Cystinosis, a rare disease that primarily affects children and a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs ... Details >
About Primary Hyperoxaluria
Online information for consumers about primary hyperoxaluria, a rare metabolic disease caused by the liver making too much oxalic acid which is excreted in the urine.... Details >
About Schwannomatosis
This site provides information about the disease and Features of Schwannomatosis.... Details >
Acid Maltase Deficiency Association Home Page
The Acid Maltase Deficiency Association, A M D A, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe's Disease.... Details >
Ataxia Chapters, Support Groups, and Ambassadors
This site provides a database to a comprehensive listing of groups and individuals who meet to discuss Ataxia related issues. ... Details >
Behcet's Disease Information
A general overview of Behcet's disease that includes a description and information about treatment, prognosis and research. A list of organizations where users may obtain additional information and se... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Cavernous Malformation Information Page
This page is a backgrounder on cavernous malformation, a rare disorder of the capillaries and smallest veins in one part of the brain. The disorder occurs when a blood-filled mass resembling a tumor, ... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Characteristics of Fragile X Syndrome
This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
Congenital Adrenal Hyperplasia (CAH): The Facts You Need To Know
This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
Creutzfeldt-Jakob Disease (CJD)
Also available in: Spanish
A general overview of Creutzfeldt-Jakob Disease (CJD) that includes a description and information about treatment, prognosis and research. A list of organizations where users may obtain additional inf... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health