MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Episodic ataxia with slurred speech

ORPHA:401953Disease
Autosomal dominant

Epithelial basement membrane dystrophy

ORPHA:98956Disease
Autosomal dominant

Epithelial recurrent erosion dystrophy

ORPHA:293381Disease
Autosomal dominant

Epithelioid hemangioendothelioma

ORPHA:157791Disease
Not applicable

Epithelioid hemangioma

ORPHA:675396Disease

Epithelioid sarcoma

ORPHA:293202Disease
Not applicable

Epithelioid trophoblastic tumor

ORPHA:254698Disease
Not applicable

Epstein-Barr virus-associated gastric carcinoma

ORPHA:313920Disease
Multigenic/multifactorial

Epstein-Barr virus-positive diffuse large B-cell lymphoma

ORPHA:289661Disease
Not applicable

Erdheim-Chester disease

ORPHA:35687Disease
Not applicable

Ermine phenotype

ORPHA:999Malform.
Autosomal recessive

Erosive pustular dermatosis of the scalp

ORPHA:222Disease
Not applicable

Erythema elevatum diutinum

ORPHA:90000Disease
Unknown

Erythema multiforme major

ORPHA:502499Disease

Erythema palmare hereditarium

ORPHA:231031Disease
Autosomal dominant

Erythrocyte galactose epimerase deficiency

ORPHA:308473Clin. sub.
Autosomal recessive

Erythroderma desquamativum

ORPHA:314Disease
Autosomal recessive

Erythrokeratoderma ''en cocardes''

ORPHA:315Disease
Autosomal dominant

Erythrokeratoderma variabilis progressiva

ORPHA:308166Clin. grp.

Erythrokeratodermia variabilis

ORPHA:317Disease
Autosomal dominant, Autosomal recessive

Erythrokeratodermia-cardiomyopathy syndrome

ORPHA:476096Disease
Not applicable

Erythropoietic uroporphyria associated with myeloid malignancy

ORPHA:280379Disease
Autosomal recessive

Esophageal atresia

ORPHA:1199Morph.
Not applicable

Essential fructosuria

ORPHA:2056Disease
Autosomal recessive