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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Ebola hemorrhagic fever

ORPHA:319218Заболевание
Not applicable

Ebstein malformation of the tricuspid valve

ORPHA:1880Морф.
Autosomal dominant, Not applicable

Ectodermal dysplasia syndrome

ORPHA:79373Кат.

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

ORPHA:708036Порок
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Порок
Autosomal dominant

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

ORPHA:708043Порок
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Порок

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Порок
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Порок
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Порок
X-linked recessive

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

ORPHA:708014Порок

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Порок
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Порок
Autosomal recessive

Ectodermal dysplasia-skin fragility syndrome

ORPHA:158668Заболевание
Autosomal recessive

Ectopia cordis

ORPHA:448270Морф.
Not applicable

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

ORPHA:1884Заболевание
Autosomal recessive

Ectopic aldosterone-producing tumor

ORPHA:231632Заболевание
Not applicable

Ectrodactyly-polydactyly syndrome

ORPHA:1892Порок

Edinburgh malformation syndrome

ORPHA:1895Порок
Unknown

Ehlers-Danlos syndrome

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

Ehlers-Danlos/osteogenesis imperfecta syndrome

ORPHA:230857Заболевание
Autosomal dominant

Ehrlichiosis

ORPHA:1902Заболевание

Eiken syndrome

ORPHA:79106Порок
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Порок
Not applicable