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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Emanuel syndrome

ORPHA:96170Malform.

Emery-Nelson syndrome

ORPHA:1927Malform.

Enamel-renal syndrome

ORPHA:1031Malform.
Autosomal recessive

Endocrine-cerebro-osteodysplasia syndrome

ORPHA:199332Malform.
Autosomal recessive

Endosteal hyperostosis, Worth type

ORPHA:2790Malform.
Autosomal dominant

Endosteal sclerosis-cerebellar hypoplasia syndrome

ORPHA:85186Malform.
Autosomal recessive

Eng-Strom syndrome

ORPHA:1937Malform.
Autosomal dominant

Enlarged parietal foramina

ORPHA:60015Malform.
Autosomal dominant

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

ORPHA:231742Malform.
Autosomal dominant

Epidermolysis bullosa simplex with anodontia/hypodontia

ORPHA:2325Malform.

Epilepsy-microcephaly-skeletal dysplasia syndrome

ORPHA:1948Malform.
Autosomal recessive

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825Malform.

Epiphyseal stippling-osteoclastic hyperplasia syndrome

ORPHA:1952Malform.
Autosomal recessive

Ermine phenotype

ORPHA:999Malform.
Autosomal recessive

Exostoses-anetodermia-brachydactyly type E syndrome

ORPHA:1962Malform.
Unknown

Exstrophy-epispadias complex

ORPHA:322Malform.
Multigenic/multifactorial

Extensor tendons of finger anomalies

ORPHA:3294Malform.

External auditory canal atresia-vertical talus-hypertelorism syndrome

ORPHA:3023Malform.
Autosomal dominant, Not applicable, Unknown

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

ORPHA:1964Malform.
Autosomal dominant

Eyebrow duplication-syndactyly syndrome

ORPHA:3172Malform.
Autosomal recessive

FATCO syndrome

ORPHA:2492Malform.

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

ORPHA:404451Malform.
Autosomal recessive

FOXP1 Syndrome

ORPHA:391372Malform.
Autosomal dominant

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

ORPHA:693549Malform.
Autosomal dominant