Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Emanuel syndrome
Antenatal, Neonatal
Emery-Nelson syndrome
Infancy, Neonatal
Enamel-renal syndrome
Autosomal recessive
Childhood
Endocrine-cerebro-osteodysplasia syndrome
Autosomal recessive
Infancy, Neonatal
Endosteal hyperostosis, Worth type
Autosomal dominant
Adolescent
Endosteal sclerosis-cerebellar hypoplasia syndrome
Autosomal recessive
Infancy, Neonatal
Eng-Strom syndrome
Autosomal dominant
Antenatal
Enlarged parietal foramina
Autosomal dominant
Antenatal, Neonatal
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Autosomal dominant
Infancy, Neonatal
Epidermolysis bullosa simplex with anodontia/hypodontia
Infancy, Neonatal
Epilepsy-microcephaly-skeletal dysplasia syndrome
Autosomal recessive
Neonatal
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Neonatal
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Autosomal recessive
Antenatal, Neonatal
Ermine phenotype
Autosomal recessive
Neonatal
Exostoses-anetodermia-brachydactyly type E syndrome
Unknown
Neonatal
Exstrophy-epispadias complex
Multigenic/multifactorial
Antenatal, Neonatal
Extensor tendons of finger anomalies
Neonatal
External auditory canal atresia-vertical talus-hypertelorism syndrome
Autosomal dominant, Not applicable, Unknown
Neonatal
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Autosomal dominant
Neonatal
Eyebrow duplication-syndactyly syndrome
Autosomal recessive
Infancy, Neonatal
FATCO syndrome
Antenatal, Neonatal
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Autosomal recessive
Neonatal
FOXP1 Syndrome
Autosomal dominant
Infancy, Neonatal
Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome
Autosomal dominant