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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8	View info
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9	View info
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE; ECDM	View info
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1	View info
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3	View info
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS	View info
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD	View info
EPISODIC ATAXIA TYPE 1	View info
EPISODIC ATAXIA, TYPE 1; EA1	View info
EPISODIC ATAXIA, TYPE 2; EA2	View info
EPISODIC ATAXIA, TYPE 5; EA5	View info
EPISODIC ATAXIA, TYPE 6; EA6	View info
EPISODIC KINESIGENIC DYSKINESIA 1; EKD1	View info
EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1	View info
EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2	View info
EPSTEIN SYNDROME; EPSTNS	View info
ERYTHERMALGIA, PRIMARY	View info
ERYTHROCYTE AMP DEAMINASE DEFICIENCY	View info
ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1	View info

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