Rare Diseases List

There are more than 7,000 rare diseases. We have begun to list these diseases here as well as provide a link to a community dedicated to rare diseases called RareShare. Please keep checking back as this list continues to expand.

Adrenomyeloneuropathy

Antisynthetase Syndrome

Birdshot Chorioretinopathy

15q 26.2 Deletion

Chromosome 4q Deletion Syndrome

Common Variable Immunodeficiency

Moyamoya

Muckle-Wells Syndrome

Sarcoidosis

Sjogren’s Syndrome

Syringomyelia

Systemic Capillary Leak Syndrome