Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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
Spinocerebellar degeneration-corneal dystrophy syndrome
Autosomal recessive
Childhood, Infancy
Spirillary rat-bite fever
All ages
Splenic arteriovenous malformation
Not applicable
Splenic marginal zone lymphoma
Not applicable
Adult
Splenic venous malformation
Not applicable
Splenogonadal fusion-limb defects-micrognathia syndrome
Antenatal, Neonatal
Split cord malformation
Adolescent, Adult, Childhood, Infancy
Split cord malformation type I
Adolescent, Adult, Childhood, Infancy
Split cord malformation type II
Adolescent, Adult, Childhood, Infancy
Split cord malformation, composite type
Split hand-split foot-deafness syndrome
Autosomal recessive
Infancy, Neonatal
Split-foot malformation-mesoaxial polydactyly syndrome
Autosomal recessive
Neonatal
Spondylo-megaepiphyseal-metaphyseal dysplasia
Autosomal recessive
Infancy, Neonatal
Spondylo-ocular syndrome
Autosomal recessive
Infancy, Neonatal
Spondylocamptodactyly syndrome
Neonatal
Spondylocarpotarsal synostosis
Autosomal recessive
Childhood, Infancy
Spondylodysplastic Ehlers-Danlos syndrome
Infancy, Neonatal
Spondyloenchondrodysplasia
Autosomal recessive
Childhood