Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3	View info
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4	View info
EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6	View info
EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8	View info
EPILEPSY, PYRIDOXINE-DEPENDENT; EPD	View info
EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2	View info

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