Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Elastoderma
Not applicable
Adolescent, Adult
Elastofibroma dorsi
Not applicable
Adult
Elastoma
Not applicable
Childhood
Elastosis perforans serpiginosa
All ages
Ellis Van Creveld syndrome
Autosomal recessive
Antenatal, Neonatal
Emanuel syndrome
Antenatal, Neonatal
Embryonal carcinoma
Not applicable
Adolescent, Childhood
Embryonal rhabdomyosarcoma
Multigenic/multifactorial
Embryonal tumor of neuroepithelial tissue
Emergomycosis
Not applicable
Emery-Dreifuss muscular dystrophy
Autosomal dominant, Autosomal recessive, X-linked recessive
Childhood
Emery-Nelson syndrome
Infancy, Neonatal
Enamel-renal syndrome
Autosomal recessive
Childhood
Encephalitis lethargica
Not applicable
Adult
Encephalocraniocutaneous lipomatosis
Not applicable
Antenatal, Neonatal
Encephalopathy due to mitochondrial and peroxisomal fission defect
Childhood, Infancy, Neonatal
Encephalopathy due to prosaposin deficiency
Autosomal recessive
Infancy, Neonatal
Encephalopathy due to sulfite oxidase deficiency
Autosomal recessive
Antenatal, Infancy, Neonatal
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Autosomal recessive
Neonatal
Endemic pemphigus foliaceus
All ages
Endocardial fibroelastosis
Unknown
Neonatal
Endocrine-cerebro-osteodysplasia syndrome
Autosomal recessive
Infancy, Neonatal
Endometrial stromal sarcoma
Endometrioid carcinoma of ovary
Not applicable
Adult, Elderly