Eagle-Barretts syndrom
Eales sygdom
Ear-Patella-Short stature syndrome
Early Myoclonic Encephalopathy
EDS type IV
Edwards syndrom
EEC syndrom
Ehlers-Danlos syndrom
Ektrodaktyli, ektodermal dysplasi og læbe-ganespalte
Ellis van Creveld syndrom
Emanuels syndrom
Encephalocele
Enchondromatose
Eosinofil gastroenteritis
Eosinofil pneumoni
Epidermolysis bullosa
Episodic Kinesigenic Dyskinesia 1
Episodisk ataksi
Erytropoietisk porfyri
Extrahepatic biliary atresia
