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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Epidermal nevus syndrome

ORPHA:35125Disease
Not applicable

Epidermolysis bullosa acquisita

ORPHA:46487Disease
Not applicable

Epidermolysis bullosa simplex due to BP230 deficiency

ORPHA:412181Disease
Autosomal recessive

Epidermolysis bullosa simplex due to exophilin 5 deficiency

ORPHA:412189Disease
Autosomal recessive

Epidermolysis bullosa simplex with circinate migratory erythema

ORPHA:158681Disease
Autosomal dominant

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

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-telangiectasia syndrome

ORPHA:1951Disease
Autosomal recessive

Epileptic encephalopathy with global cerebral demyelination

ORPHA:353217Disease
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