Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Spinocerebellar ataxia type 45
Autosomal dominant
Adult
Spinocerebellar ataxia type 46
Autosomal dominant
Adult
Spinocerebellar ataxia type 48
Autosomal dominant
Adult
Spinocerebellar ataxia type 49
Autosomal dominant
Adolescent, Adult, Childhood
Spinocerebellar ataxia type 5
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Spinocerebellar ataxia type 6
Autosomal dominant
Adolescent, Adult, Elderly
Spinocerebellar ataxia type 7
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Spinocerebellar ataxia type 8
Autosomal dominant
Adult
Spinocerebellar ataxia with axonal neuropathy type 1
Autosomal recessive
Adolescent
Spinocerebellar ataxia with axonal neuropathy type 2
Autosomal recessive
Adolescent, Adult, Childhood
Spinocerebellar ataxia with epilepsy
Autosomal recessive
Adolescent, Childhood
Spinocerebellar ataxia-dysmorphism syndrome
Autosomal recessive
Infancy
Splenic marginal zone lymphoma
Not applicable
Adult
Splenic venous malformation
Not applicable
Spondylo-megaepiphyseal-metaphyseal dysplasia
Autosomal recessive
Infancy, Neonatal
Spondylodysplastic Ehlers-Danlos syndrome
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Autosomal dominant
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Autosomal dominant
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, Geneviève type
Autosomal recessive
Infancy
Spondyloepimetaphyseal dysplasia, Handigodu type
Adolescent, Adult, Childhood
Spondyloepimetaphyseal dysplasia, Irapa type
Autosomal recessive
Childhood
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Autosomal dominant
Infancy, Neonatal
Spondyloepimetaphyseal dysplasia, Maroteaux type
Not applicable
Infancy, Neonatal