MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Ebola hemorrhagic fever

ORPHA:319218Kr.
Not applicable

Ebstein malformation of the tricuspid valve

ORPHA:1880Morph.
Autosomal dominant, Not applicable

Ectodermal dysplasia syndrome

ORPHA:79373Kat.

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

ORPHA:708036Malf.
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Malf.
Autosomal dominant

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

ORPHA:708043Malf.
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Malf.

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Malf.
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Malf.
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Malf.
X-linked recessive

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

ORPHA:708014Malf.

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Malf.
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Malf.
Autosomal recessive

Ectodermal dysplasia-skin fragility syndrome

ORPHA:158668Kr.
Autosomal recessive

Ectopia cordis

ORPHA:448270Morph.
Not applicable

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

ORPHA:1884Kr.
Autosomal recessive

Ectopic aldosterone-producing tumor

ORPHA:231632Kr.
Not applicable

Ectrodactyly-polydactyly syndrome

ORPHA:1892Malf.

Edinburgh malformation syndrome

ORPHA:1895Malf.
Unknown

Ehlers-Danlos syndrome

ORPHA:98249Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Ehlers-Danlos/osteogenesis imperfecta syndrome

ORPHA:230857Kr.
Autosomal dominant

Ehrlichiosis

ORPHA:1902Kr.

Eiken syndrome

ORPHA:79106Malf.
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Malf.
Not applicable