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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

Spinocerebellar ataxia type 45

ORPHA:589527Disease
Autosomal dominant

Spinocerebellar ataxia type 46

ORPHA:589522Disease
Autosomal dominant

Spinocerebellar ataxia type 48

ORPHA:631103Disease
Autosomal dominant

Spinocerebellar ataxia type 49

ORPHA:631106Disease
Autosomal dominant

Spinocerebellar ataxia type 5

ORPHA:98766Disease
Autosomal dominant

Spinocerebellar ataxia type 6

ORPHA:98758Disease
Autosomal dominant

Spinocerebellar ataxia type 7

ORPHA:94147Disease
Autosomal dominant

Spinocerebellar ataxia type 8

ORPHA:98760Disease
Autosomal dominant

Spinocerebellar ataxia with axonal neuropathy type 1

ORPHA:94124Disease
Autosomal recessive

Spinocerebellar ataxia with axonal neuropathy type 2

ORPHA:64753Disease
Autosomal recessive

Spinocerebellar ataxia with epilepsy

ORPHA:254881Disease
Autosomal recessive

Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185Disease
Autosomal recessive

Splenic marginal zone lymphoma

ORPHA:86854Disease
Not applicable

Splenic venous malformation

ORPHA:688523Disease
Not applicable

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387Disease
Autosomal recessive

Spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536471Disease

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

ORPHA:93346Disease
Autosomal dominant

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

ORPHA:642099Disease

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

ORPHA:93360Disease
Autosomal dominant

Spondyloepimetaphyseal dysplasia, Geneviève type

ORPHA:168454Disease
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Handigodu type

ORPHA:99642Disease

Spondyloepimetaphyseal dysplasia, Irapa type

ORPHA:93351Disease
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

ORPHA:370015Disease
Autosomal dominant

Spondyloepimetaphyseal dysplasia, Maroteaux type

ORPHA:263482Disease
Not applicable