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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

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

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Malform.
Autosomal recessive

Spirillary rat-bite fever

ORPHA:99903Etio. sub.

Splenic arteriovenous malformation

ORPHA:693863Malform.
Not applicable

Splenic marginal zone lymphoma

ORPHA:86854Disease
Not applicable

Splenic venous malformation

ORPHA:688523Disease
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Malform.

Split cord malformation

ORPHA:573278Clin. grp.

Split cord malformation type I

ORPHA:1671Morph.

Split cord malformation type II

ORPHA:573253Morph.

Split cord malformation, composite type

ORPHA:633076Morph.

Split hand-split foot-deafness syndrome

ORPHA:71271Malform.
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Malform.
Autosomal recessive

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387Disease
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Malform.
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Malform.

Spondylocarpotarsal synostosis

ORPHA:3275Malform.
Autosomal recessive

Spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536471Disease

Spondyloenchondrodysplasia

ORPHA:1855Malform.
Autosomal recessive