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
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA	View info
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS	View info
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D	View info
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1	View info
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2	View info
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5	View info
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1	View info
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3	View info
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1	View info
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7	View info
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD	View info
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS	View info
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11	View info
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14	View info
EPILEPSY, IDIOPATHIC GENERALIZED; EIG	View info
EPILEPSY, MYOCLONIC JUVENILE; EJM	View info
EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1	View info
EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4	View info
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5	View info
EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10	View info

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