MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Embryonal carcinoma

ORPHA:180226Disease
Not applicable

Emergomycosis

ORPHA:697091Disease
Not applicable

Emery-Dreifuss muscular dystrophy

ORPHA:261Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Encephalitis lethargica

ORPHA:83600Disease
Not applicable

Encephalocraniocutaneous lipomatosis

ORPHA:2396Disease
Not applicable

Encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:527276Disease

Encephalopathy due to prosaposin deficiency

ORPHA:139406Disease
Autosomal recessive

Encephalopathy due to sulfite oxidase deficiency

ORPHA:833Disease
Autosomal recessive

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

ORPHA:319678Disease
Autosomal recessive

Endemic pemphigus foliaceus

ORPHA:636955Disease

Endocardial fibroelastosis

ORPHA:2022Disease
Unknown

Endometrial stromal sarcoma

ORPHA:213711Disease

Endometrioid carcinoma of ovary

ORPHA:454723Disease
Not applicable

Enteric anendocrinosis

ORPHA:83620Disease
Autosomal recessive

Enteropathy-associated T-cell lymphoma

ORPHA:86880Disease
Not applicable

Enthesitis-related juvenile idiopathic arthritis

ORPHA:85438Disease
Unknown

Eosinophilic angiocentric fibrosis

ORPHA:449566Disease
Not applicable

Eosinophilic colitis

ORPHA:402035Disease

Eosinophilic cystitis

ORPHA:708684Disease

Eosinophilic fasciitis

ORPHA:3165Disease
Unknown

Eosinophilic gastroenteritis

ORPHA:2070Disease
Not applicable

Eosinophilic granulomatosis with polyangiitis

ORPHA:183Disease
Not applicable

Ependymoma

ORPHA:251636Disease
Not applicable

Epidemic typhus

ORPHA:83314Disease
Not applicable