MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Emanuel syndrome

ORPHA:96170Порок

Emery-Nelson syndrome

ORPHA:1927Порок

Enamel-renal syndrome

ORPHA:1031Порок
Autosomal recessive

Endocrine-cerebro-osteodysplasia syndrome

ORPHA:199332Порок
Autosomal recessive

Endosteal hyperostosis, Worth type

ORPHA:2790Порок
Autosomal dominant

Endosteal sclerosis-cerebellar hypoplasia syndrome

ORPHA:85186Порок
Autosomal recessive

Eng-Strom syndrome

ORPHA:1937Порок
Autosomal dominant

Enlarged parietal foramina

ORPHA:60015Порок
Autosomal dominant

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

ORPHA:231742Порок
Autosomal dominant

Epidermolysis bullosa simplex with anodontia/hypodontia

ORPHA:2325Порок

Epilepsy-microcephaly-skeletal dysplasia syndrome

ORPHA:1948Порок
Autosomal recessive

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825Порок

Epiphyseal stippling-osteoclastic hyperplasia syndrome

ORPHA:1952Порок
Autosomal recessive

Ermine phenotype

ORPHA:999Порок
Autosomal recessive

Exostoses-anetodermia-brachydactyly type E syndrome

ORPHA:1962Порок
Unknown

Exstrophy-epispadias complex

ORPHA:322Порок
Multigenic/multifactorial

Extensor tendons of finger anomalies

ORPHA:3294Порок

External auditory canal atresia-vertical talus-hypertelorism syndrome

ORPHA:3023Порок
Autosomal dominant, Not applicable, Unknown

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

ORPHA:1964Порок
Autosomal dominant

Eyebrow duplication-syndactyly syndrome

ORPHA:3172Порок
Autosomal recessive

FATCO syndrome

ORPHA:2492Порок

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

ORPHA:404451Порок
Autosomal recessive

FOXP1 Syndrome

ORPHA:391372Порок
Autosomal dominant

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

ORPHA:693549Порок
Autosomal dominant