MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

EEM syndrome

ORPHA:1897Malf.
Autosomal recessive

EN1-related dorsoventral syndrome

ORPHA:611223Malf.

EPHB4-related capillary malformation-arteriovenous malformation

ORPHA:693912Malf.
Autosomal dominant

EVEN-plus syndrome

ORPHA:496751Malf.
Autosomal recessive

Ear-patella-short stature syndrome

ORPHA:2554Malf.
Autosomal dominant, Autosomal recessive

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

ORPHA:411986Malf.
Autosomal recessive

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

ORPHA:496641Malf.
Autosomal recessive

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

ORPHA:500144Malf.
Autosomal recessive

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

ORPHA:505237Malf.
Autosomal recessive

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

Ectrodactyly-polydactyly syndrome

ORPHA:1892Malf.

Edinburgh malformation syndrome

ORPHA:1895Malf.
Unknown

Eiken syndrome

ORPHA:79106Malf.
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Malf.
Not applicable

Ellis Van Creveld syndrome

ORPHA:289Malf.
Autosomal recessive