MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Ebola hemorrhagic fever

ORPHA:319218Заболевание
Not applicable

Ebstein malformation of the tricuspid valve

ORPHA:1880Морф. аномалия
Autosomal dominant, Not applicable

Ectodermal dysplasia syndrome

ORPHA:79373Категория

Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth

ORPHA:708036Мальформация
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Мальформация
Autosomal dominant

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

ORPHA:708043Мальформация
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Мальформация

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Мальформация
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Мальформация
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Мальформация
X-linked recessive

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

ORPHA:708014Мальформация

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Мальформация
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Мальформация
Autosomal recessive

Ectodermal dysplasia-skin fragility syndrome

ORPHA:158668Заболевание
Autosomal recessive

Ectopia cordis

ORPHA:448270Морф. аномалия
Not applicable

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

ORPHA:1884Заболевание
Autosomal recessive

Ectopic aldosterone-producing tumor

ORPHA:231632Заболевание
Not applicable

Ectrodactyly-polydactyly syndrome

ORPHA:1892Мальформация

Edinburgh malformation syndrome

ORPHA:1895Мальформация
Unknown

Ehlers-Danlos syndrome

ORPHA:98249Клин. группа
Autosomal dominant, Autosomal recessive, X-linked recessive

Ehlers-Danlos/osteogenesis imperfecta syndrome

ORPHA:230857Заболевание
Autosomal dominant

Ehrlichiosis

ORPHA:1902Заболевание

Eiken syndrome

ORPHA:79106Мальформация
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Мальформация
Not applicable