MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Epidermolysis bullosa simplex with mottled pigmentation

ORPHA:79397Kr.
Autosomal dominant

Epidermolysis bullosa simplex with muscular dystrophy

ORPHA:257Kr.
Autosomal recessive

Epidermolysis bullosa simplex with pyloric atresia

ORPHA:158684Kr.
Autosomal recessive

Epidermolytic nevus

ORPHA:497737Kr.

Epidermolytic palmoplantar keratoderma

ORPHA:2199Kr.
Autosomal dominant

Epignathus

ORPHA:141077Kl. subt.
Not applicable

Epilepsy of infancy with migrating focal seizures

ORPHA:293181Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Epilepsy with auditory features

ORPHA:101046Kr.
Autosomal dominant

Epilepsy with eyelid myoclonia

ORPHA:139431Kr.
Unknown

Epilepsy with myoclonic absences

ORPHA:86911Kr.
Multigenic/multifactorial

Epilepsy with myoclonic-atonic seizures

ORPHA:1942Kr.
Unknown

Epilepsy with reading-induced seizures

ORPHA:166433Kr.

Epilepsy-microcephaly-skeletal dysplasia syndrome

ORPHA:1948Malf.
Autosomal recessive

Epilepsy-telangiectasia syndrome

ORPHA:1951Kr.
Autosomal recessive

Epileptic encephalopathy with global cerebral demyelination

ORPHA:353217Kr.
Autosomal recessive

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825Malf.

Epiphyseal stippling-osteoclastic hyperplasia syndrome

ORPHA:1952Malf.
Autosomal recessive

Epiphysiolysis of the hip

ORPHA:399329Kr.

Episodic ataxia type 1

ORPHA:37612Kr.
Autosomal dominant

Episodic ataxia type 3

ORPHA:79135Kr.
Autosomal dominant

Episodic ataxia type 4

ORPHA:79136Kr.
Autosomal dominant

Episodic ataxia type 5

ORPHA:211067Kr.
Autosomal dominant

Episodic ataxia type 6

ORPHA:209967Kr.
Autosomal dominant

Episodic ataxia type 7

ORPHA:209970Kr.
Autosomal dominant