MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Endosteal hyperostosis, Worth type

ORPHA:2790Malform.
Autosomal dominant

Endosteal sclerosis-cerebellar hypoplasia syndrome

ORPHA:85186Malform.
Autosomal recessive

Eng-Strom syndrome

ORPHA:1937Malform.
Autosomal dominant

Enlarged parietal foramina

ORPHA:60015Malform.
Autosomal dominant

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

Ependymal tumor

ORPHA:301Clin. grp.

Ependymoma

ORPHA:251636Disease
Not applicable

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

ORPHA:231742Malform.
Autosomal dominant

Epidemic typhus

ORPHA:83314Disease
Not applicable

Epidermal nevus syndrome

ORPHA:35125Disease
Not applicable

Epidermolysis bullosa acquisita

ORPHA:46487Disease
Not applicable

Epidermolysis bullosa simplex

ORPHA:304Clin. grp.
Autosomal dominant, Autosomal recessive

Epidermolysis bullosa simplex due to BP230 deficiency

ORPHA:412181Disease
Autosomal recessive

Epidermolysis bullosa simplex due to exophilin 5 deficiency

ORPHA:412189Disease
Autosomal recessive

Epidermolysis bullosa simplex with anodontia/hypodontia

ORPHA:2325Malform.

Epidermolysis bullosa simplex with circinate migratory erythema

ORPHA:158681Disease
Autosomal dominant