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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Elastoderma

ORPHA:228240Заболевание
Not applicable

Elastofibroma dorsi

ORPHA:228243Заболевание
Not applicable

Elastoma

ORPHA:228254Заболевание
Not applicable

Elastosis perforans serpiginosa

ORPHA:79148Заболевание

Ellis Van Creveld syndrome

ORPHA:289Порок
Autosomal recessive

Emanuel syndrome

ORPHA:96170Порок

Embryonal carcinoma

ORPHA:180226Заболевание
Not applicable

Embryonal rhabdomyosarcoma

ORPHA:99757Клин. подт.
Multigenic/multifactorial

Embryonal tumor of neuroepithelial tissue

ORPHA:251852Кат.

Emergomycosis

ORPHA:697091Заболевание
Not applicable

Emery-Dreifuss muscular dystrophy

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

Emery-Nelson syndrome

ORPHA:1927Порок

Enamel-renal syndrome

ORPHA:1031Порок
Autosomal recessive

Encephalitis lethargica

ORPHA:83600Заболевание
Not applicable

Encephalocraniocutaneous lipomatosis

ORPHA:2396Заболевание
Not applicable

Encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:527276Заболевание

Encephalopathy due to prosaposin deficiency

ORPHA:139406Заболевание
Autosomal recessive

Encephalopathy due to sulfite oxidase deficiency

ORPHA:833Заболевание
Autosomal recessive

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

ORPHA:319678Заболевание
Autosomal recessive

Endemic pemphigus foliaceus

ORPHA:636955Заболевание

Endocardial fibroelastosis

ORPHA:2022Заболевание
Unknown

Endocrine-cerebro-osteodysplasia syndrome

ORPHA:199332Порок
Autosomal recessive

Endometrial stromal sarcoma

ORPHA:213711Заболевание

Endometrioid carcinoma of ovary

ORPHA:454723Заболевание
Not applicable