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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Epidermolysis bullosa simplex with mottled pigmentation

ORPHA:79397Ауру
Autosomal dominant

Epidermolysis bullosa simplex with muscular dystrophy

ORPHA:257Ауру
Autosomal recessive

Epidermolysis bullosa simplex with pyloric atresia

ORPHA:158684Ауру
Autosomal recessive

Epidermolytic nevus

ORPHA:497737Ауру

Epidermolytic palmoplantar keratoderma

ORPHA:2199Ауру
Autosomal dominant

Epignathus

ORPHA:141077Клин. под.
Not applicable

Epilepsy of infancy with migrating focal seizures

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

Epilepsy with auditory features

ORPHA:101046Ауру
Autosomal dominant

Epilepsy with eyelid myoclonia

ORPHA:139431Ауру
Unknown

Epilepsy with myoclonic absences

ORPHA:86911Ауру
Multigenic/multifactorial

Epilepsy with myoclonic-atonic seizures

ORPHA:1942Ауру
Unknown

Epilepsy with reading-induced seizures

ORPHA:166433Ауру

Epilepsy-microcephaly-skeletal dysplasia syndrome

ORPHA:1948Мальф.
Autosomal recessive

Epilepsy-telangiectasia syndrome

ORPHA:1951Ауру
Autosomal recessive

Epileptic encephalopathy with global cerebral demyelination

ORPHA:353217Ауру
Autosomal recessive

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

ORPHA:1825Мальф.

Epiphyseal stippling-osteoclastic hyperplasia syndrome

ORPHA:1952Мальф.
Autosomal recessive

Epiphysiolysis of the hip

ORPHA:399329Ауру

Episodic ataxia type 1

ORPHA:37612Ауру
Autosomal dominant

Episodic ataxia type 3

ORPHA:79135Ауру
Autosomal dominant

Episodic ataxia type 4

ORPHA:79136Ауру
Autosomal dominant

Episodic ataxia type 5

ORPHA:211067Ауру
Autosomal dominant

Episodic ataxia type 6

ORPHA:209967Ауру
Autosomal dominant

Episodic ataxia type 7

ORPHA:209970Ауру
Autosomal dominant