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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

Drug reaction with eosinophilia and systemic symptoms

ORPHA:139402Disease
Not applicable

Drug-induced autoimmune hemolytic anemia

ORPHA:90037Disease
Multigenic/multifactorial

Drug-induced localized lipodystrophy

ORPHA:90157Disease

Drug-induced lupus erythematosus

ORPHA:231111Disease
Not applicable

Dubin-Johnson syndrome

ORPHA:234Disease
Autosomal recessive

Duchenne muscular dystrophy

ORPHA:98896Disease
X-linked recessive

Dyggve-Melchior-Clausen disease

ORPHA:239Disease
Autosomal recessive

Dysbetalipoproteinemia

ORPHA:412Disease
Autosomal dominant, Multigenic/multifactorial

Dyschromatosis symmetrica hereditaria

ORPHA:41Disease
Autosomal dominant

Dyschromatosis universalis hereditaria

ORPHA:241Disease
Autosomal dominant, Autosomal recessive

Dysembryoplastic neuroepithelial tumor

ORPHA:251946Disease
Not applicable

Dysequilibrium syndrome

ORPHA:1766Disease
Autosomal recessive

Dysferlin-related limb-girdle muscular dystrophy R2

ORPHA:268Disease
Autosomal recessive

Dyskeratosis congenita

ORPHA:1775Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Dysplasia of head of femur, Meyer type

ORPHA:168621Disease

Dyssegmental dysplasia, Rolland-Desbuquois type

ORPHA:156731Disease

Dyssegmental dysplasia, Silverman-Handmaker type

ORPHA:1865Disease
Autosomal recessive

Dystonia 16

ORPHA:210571Disease
Autosomal recessive

Dystonia 28

ORPHA:589618Disease
Autosomal dominant

Dystonia-aphonia syndrome

ORPHA:412217Disease
Autosomal dominant

Dystonia-parkinsonism-hypermanganesemia syndrome

ORPHA:521406Disease
Autosomal recessive

Dystrophic epidermolysis bullosa pruriginosa

ORPHA:89843Disease
Autosomal dominant, Autosomal recessive

EAST syndrome

ORPHA:199343Disease
Autosomal recessive

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

ORPHA:542301Disease
Autosomal recessive