See Rare Diseases by First Letter (E)
- Eales Disease
- Eastern Equine Encephalitis
- Ebola Virus Disease
- Ebstein's Anomaly
- Eccentrochondrodysplasia
- Eclampsia
- Ectodermal Dysplasia
- Ectopic Pregnancy
- Ehlers-Danlos Syndrome
- Eisenmenger Syndrome
- Elective Mutism
- Embryonal Carcinoma
- Endemic Kaposi Sarcoma
- Endolymphatic Sac Tumor
- Endometrial Stromal Sarcoma
- Endomyocardial Fibrosis
- Enlarged Vestibular Aqueduct Syndrome
- Enteropathy-associated T-cell Lymphoma
- Eosinophilia-myalgia Syndrome
- Eosinophilic Enteropathy
- Eosinophilic Fasciitis
- Ependymoblastoma
- Ependymoma
- Epidermodysplasia Verruciformis
- Epidermolysis Bullosa
- Epidermolysis Bullosa Acquisita
- Epidermolysis Bullosa Simplex
- Epilepsy Juvenile Absence
- Epileptic Encephalopathy Lennox-Gastaut Type
- Episodic Ataxia
- Episodic Ataxia With Nystagmus
- Epithelial-myoepithelial Carcinoma
- Epithelioid Sarcoma
- Erdheim-Chester Disease
- Erysipelas
- Erythromelalgia
- Erythroplakia
- Erythropoietic Protoporphyria
- Esophageal Atresia
- Esophageal Cancer
- Esophageal Varices
- Esotropia
- Essential Thrombocythemia
- Essential Tremor
- Esthesioneuroblastoma
- Evans Syndrome
- Ewing's Family of Tumors
- Ewing's Sarcoma
- Exercise Induced Anaphylaxis
- Exfoliative Dermatitis
- Exstrophy of the Bladder
- Extracranial Germ Cell Tumor, Childhood
- Extragonadal Germ Cell Tumor