MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Epidermal nevus syndrome

ORPHA:35125Заболевание
Not applicable

Epidermolysis bullosa acquisita

ORPHA:46487Заболевание
Not applicable

Epidermolysis bullosa simplex due to BP230 deficiency

ORPHA:412181Заболевание
Autosomal recessive

Epidermolysis bullosa simplex due to exophilin 5 deficiency

ORPHA:412189Заболевание
Autosomal recessive

Epidermolysis bullosa simplex with circinate migratory erythema

ORPHA:158681Заболевание
Autosomal dominant

Epidermolysis bullosa simplex with mottled pigmentation

ORPHA:79397Заболевание
Autosomal dominant

Epidermolysis bullosa simplex with muscular dystrophy

ORPHA:257Заболевание
Autosomal recessive

Epidermolysis bullosa simplex with pyloric atresia

ORPHA:158684Заболевание
Autosomal recessive

Epidermolytic nevus

ORPHA:497737Заболевание

Epidermolytic palmoplantar keratoderma

ORPHA:2199Заболевание
Autosomal dominant

Epilepsy of infancy with migrating focal seizures

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

Epilepsy with auditory features

ORPHA:101046Заболевание
Autosomal dominant

Epilepsy with eyelid myoclonia

ORPHA:139431Заболевание
Unknown

Epilepsy with myoclonic absences

ORPHA:86911Заболевание
Multigenic/multifactorial

Epilepsy with myoclonic-atonic seizures

ORPHA:1942Заболевание
Unknown

Epilepsy with reading-induced seizures

ORPHA:166433Заболевание

Epilepsy-telangiectasia syndrome

ORPHA:1951Заболевание
Autosomal recessive

Epileptic encephalopathy with global cerebral demyelination

ORPHA:353217Заболевание
Autosomal recessive

Epiphysiolysis of the hip

ORPHA:399329Заболевание

Episodic ataxia type 1

ORPHA:37612Заболевание
Autosomal dominant

Episodic ataxia type 3

ORPHA:79135Заболевание
Autosomal dominant

Episodic ataxia type 4

ORPHA:79136Заболевание
Autosomal dominant

Episodic ataxia type 5

ORPHA:211067Заболевание
Autosomal dominant

Episodic ataxia type 6

ORPHA:209967Заболевание
Autosomal dominant