Rare disease

Keratitis–ichthyosis–deafness syndrome Epstein syndrome familial visceral amyloidosis syndactyly tuberous sclerosis hypertrophic cardiomyopathy hemophilia C Norrie disease retinopathy of prematurity gamma chain deficiency trisomy 22 pantothenate kinase-associated neurodegeneration fragile X-associated tremor/ataxia syndrome Tangier disease multiple epiphyseal dysplasia Madelung's deformity coloboma Bloom syndrome Crohn's disease cone dystrophy common variable immunodeficiency paroxysmal nocturnal hemoglobinuria encephalopathy due to GLUT1 deficiency protein C deficiency Rotor syndrome thyroid hormone resistance syndrome renal tubular acidosis inclusion-cell disease pancreatitis Muckle-Wells syndrome Kabuki syndrome Rosenthal fiber Noonan syndrome Noonan syndrome Peters plus syndrome Developmental verbal dyspraxia thrombophilia malignant hyperthermia hereditary folate malabsorption hereditary fructose intolerance syndrome Molybdenum cofactor deficiency Walker–Warburg syndrome Landau–Kleffner syndrome Duchenne muscular dystrophy hyperthyroidism osteonecrosis of the femoral head patterned macular dystrophy 2 Jacobsen syndrome Congenital dislocation of the knee bare lymphocyte syndrome 2