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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Ebola hemorrhagic fever

ORPHA:319218Disease
Not applicable

Ebstein malformation of the tricuspid valve

ORPHA:1880Morph.
Autosomal dominant, Not applicable

Ectodermal dysplasia syndrome

ORPHA:79373Cat.

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

ORPHA:708036Malform.
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Malform.
Autosomal dominant

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

ORPHA:708043Malform.
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Malform.

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Malform.
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Malform.
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Malform.
X-linked recessive

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

ORPHA:708014Malform.

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Malform.
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Malform.
Autosomal recessive

Ectodermal dysplasia-skin fragility syndrome

ORPHA:158668Disease
Autosomal recessive

Ectopia cordis

ORPHA:448270Morph.
Not applicable

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

ORPHA:1884Disease
Autosomal recessive

Ectopic aldosterone-producing tumor

ORPHA:231632Disease
Not applicable

Ectrodactyly-polydactyly syndrome

ORPHA:1892Malform.

Edinburgh malformation syndrome

ORPHA:1895Malform.
Unknown

Ehlers-Danlos syndrome

ORPHA:98249Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Ehlers-Danlos/osteogenesis imperfecta syndrome

ORPHA:230857Disease
Autosomal dominant

Ehrlichiosis

ORPHA:1902Disease

Eiken syndrome

ORPHA:79106Malform.
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Malform.
Not applicable