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
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5	View info
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9	View info
MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10	View info
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11	View info
MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12	View info
MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13	View info
MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14	View info
MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16	View info
MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17	View info
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A	View info
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B	View info
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20	View info
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A	View info
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C	View info
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A	View info
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B	View info
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C	View info
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B	View info
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C	View info
MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5	View info

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