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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:94147Заболевание
Autosomal dominant

Spinocerebellar ataxia type 8

ORPHA:98760Заболевание
Autosomal dominant

Spinocerebellar ataxia with axonal neuropathy type 1

ORPHA:94124Заболевание
Autosomal recessive

Spinocerebellar ataxia with axonal neuropathy type 2

ORPHA:64753Заболевание
Autosomal recessive

Spinocerebellar ataxia with epilepsy

ORPHA:254881Заболевание
Autosomal recessive

Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185Заболевание
Autosomal recessive

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Порок
Autosomal recessive

Spirillary rat-bite fever

ORPHA:99903Этиол. подт.

Splenic arteriovenous malformation

ORPHA:693863Порок
Not applicable

Splenic marginal zone lymphoma

ORPHA:86854Заболевание
Not applicable

Splenic venous malformation

ORPHA:688523Заболевание
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Порок

Split cord malformation

ORPHA:573278Клин. гр.

Split cord malformation type I

ORPHA:1671Морф.

Split cord malformation type II

ORPHA:573253Морф.

Split cord malformation, composite type

ORPHA:633076Морф.

Split hand-split foot-deafness syndrome

ORPHA:71271Порок
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Порок
Autosomal recessive

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387Заболевание
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Порок
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Порок

Spondylocarpotarsal synostosis

ORPHA:3275Порок
Autosomal recessive

Spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536471Заболевание

Spondyloenchondrodysplasia

ORPHA:1855Порок
Autosomal recessive