MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Episodic ataxia with slurred speech

ORPHA:401953Заболевание
Autosomal dominant

Epithelial basement membrane dystrophy

ORPHA:98956Заболевание
Autosomal dominant

Epithelial recurrent erosion dystrophy

ORPHA:293381Заболевание
Autosomal dominant

Epithelioid hemangioendothelioma

ORPHA:157791Заболевание
Not applicable

Epithelioid hemangioma

ORPHA:675396Заболевание

Epithelioid sarcoma

ORPHA:293202Заболевание
Not applicable

Epithelioid trophoblastic tumor

ORPHA:254698Заболевание
Not applicable

Epstein-Barr virus-associated gastric carcinoma

ORPHA:313920Заболевание
Multigenic/multifactorial

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

ORPHA:289661Заболевание
Not applicable

Erdheim-Chester disease

ORPHA:35687Заболевание
Not applicable

Ermine phenotype

ORPHA:999Мальформация
Autosomal recessive

Erosive pustular dermatosis of the scalp

ORPHA:222Заболевание
Not applicable

Erythema elevatum diutinum

ORPHA:90000Заболевание
Unknown

Erythema multiforme major

ORPHA:502499Заболевание

Erythema palmare hereditarium

ORPHA:231031Заболевание
Autosomal dominant

Erythrocyte galactose epimerase deficiency

ORPHA:308473Клин. подтип
Autosomal recessive

Erythroderma desquamativum

ORPHA:314Заболевание
Autosomal recessive

Erythrokeratoderma ''en cocardes''

ORPHA:315Заболевание
Autosomal dominant

Erythrokeratoderma variabilis progressiva

ORPHA:308166Клин. группа

Erythrokeratodermia variabilis

ORPHA:317Заболевание
Autosomal dominant, Autosomal recessive

Erythrokeratodermia-cardiomyopathy syndrome

ORPHA:476096Заболевание
Not applicable

Erythropoietic uroporphyria associated with myeloid malignancy

ORPHA:280379Заболевание
Autosomal recessive

Esophageal atresia

ORPHA:1199Морф. аномалия
Not applicable

Essential fructosuria

ORPHA:2056Заболевание
Autosomal recessive