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, 4; MDDGC4 View info
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

115 of 172