Rare disease

Burkitt lymphoma C syndrome CHARGE syndrome Carney complex agammaglobulinemia Kikuchi disease Cousin syndrome Joubert syndrome Coffin-Lowry syndrome Cohen syndrome Alzheimer's disease Parkinson's disease Watson syndrome advanced sleep phase syndrome congenital disorder of glycosylation SLC6A1 epileptic encephalopathy caudal regression syndrome Cornelia de Lange syndrome Costello syndrome Ewing sarcoma Crigler-Najjar syndrome familial Mediterranean fever hemolytic anemia Waardenburg's syndrome interstitial lung disease Wolfram syndrome Werner syndrome DOOR syndrome Pitt-Hopkins syndrome Wilson disease Native American myopathy Arts syndrome medullary sponge kidney renal glycosuria stiff-person syndrome Nijmegen breakage syndrome WHIM syndrome Duane retraction syndrome Dubin-Johnson syndrome febrile seizure cataract Pfeiffer syndrome Norman–Roberts syndrome Freeman–Sheldon syndrome ectodermal dysplasia Naxos disease medulloblastoma empty sella syndrome hemophilia hyperparathyroidism