MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Spinocerebellar ataxia type 45

ORPHA:589527Kr.
Autosomal dominant

Spinocerebellar ataxia type 46

ORPHA:589522Kr.
Autosomal dominant

Spinocerebellar ataxia type 48

ORPHA:631103Kr.
Autosomal dominant

Spinocerebellar ataxia type 49

ORPHA:631106Kr.
Autosomal dominant

Spinocerebellar ataxia type 5

ORPHA:98766Kr.
Autosomal dominant

Spinocerebellar ataxia type 6

ORPHA:98758Kr.
Autosomal dominant

Spinocerebellar ataxia type 7

ORPHA:94147Kr.
Autosomal dominant

Spinocerebellar ataxia type 8

ORPHA:98760Kr.
Autosomal dominant

Spinocerebellar ataxia with axonal neuropathy type 1

ORPHA:94124Kr.
Autosomal recessive

Spinocerebellar ataxia with axonal neuropathy type 2

ORPHA:64753Kr.
Autosomal recessive

Spinocerebellar ataxia with epilepsy

ORPHA:254881Kr.
Autosomal recessive

Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185Kr.
Autosomal recessive

Splenic marginal zone lymphoma

ORPHA:86854Kr.
Not applicable

Splenic venous malformation

ORPHA:688523Kr.
Not applicable

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387Kr.
Autosomal recessive

Spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536471Kr.

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

ORPHA:93346Kr.
Autosomal dominant

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

ORPHA:642099Kr.

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

ORPHA:93360Kr.
Autosomal dominant

Spondyloepimetaphyseal dysplasia, Geneviève type

ORPHA:168454Kr.
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Handigodu type

ORPHA:99642Kr.

Spondyloepimetaphyseal dysplasia, Irapa type

ORPHA:93351Kr.
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

ORPHA:370015Kr.
Autosomal dominant

Spondyloepimetaphyseal dysplasia, Maroteaux type

ORPHA:263482Kr.
Not applicable