MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Epidermolysis bullosa simplex with mottled pigmentation

ORPHA:79397Disease
Autosomal dominant

Epidermolysis bullosa simplex with muscular dystrophy

ORPHA:257Disease
Autosomal recessive

Epidermolysis bullosa simplex with pyloric atresia

ORPHA:158684Disease
Autosomal recessive

Epidermolytic nevus

ORPHA:497737Disease

Epidermolytic palmoplantar keratoderma

ORPHA:2199Disease
Autosomal dominant

Epignathus

ORPHA:141077Clin. sub.
Not applicable

Epilepsy of infancy with migrating focal seizures

ORPHA:293181Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Epilepsy with auditory features

ORPHA:101046Disease
Autosomal dominant

Epilepsy with eyelid myoclonia

ORPHA:139431Disease
Unknown

Epilepsy with myoclonic absences

ORPHA:86911Disease
Multigenic/multifactorial

Epilepsy with myoclonic-atonic seizures

ORPHA:1942Disease
Unknown

Epilepsy with reading-induced seizures

ORPHA:166433Disease

Epilepsy-microcephaly-skeletal dysplasia syndrome

ORPHA:1948Malform.
Autosomal recessive

Epilepsy-telangiectasia syndrome

ORPHA:1951Disease
Autosomal recessive

Epileptic encephalopathy with global cerebral demyelination

ORPHA:353217Disease
Autosomal recessive

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825Malform.

Epiphyseal stippling-osteoclastic hyperplasia syndrome

ORPHA:1952Malform.
Autosomal recessive

Epiphysiolysis of the hip

ORPHA:399329Disease

Episodic ataxia type 1

ORPHA:37612Disease
Autosomal dominant

Episodic ataxia type 3

ORPHA:79135Disease
Autosomal dominant

Episodic ataxia type 4

ORPHA:79136Disease
Autosomal dominant

Episodic ataxia type 5

ORPHA:211067Disease
Autosomal dominant

Episodic ataxia type 6

ORPHA:209967Disease
Autosomal dominant

Episodic ataxia type 7

ORPHA:209970Disease
Autosomal dominant