Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Subcorneal pustular dermatosis
Not applicable
Adult
Subcutaneous panniculitis-like T-cell lymphoma
Not applicable
All ages
Subependymoma
Adult
Subepithelial mucinous corneal dystrophy
Autosomal dominant
Childhood
Succinic semialdehyde dehydrogenase deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Autosomal recessive
Infancy, Neonatal
Superficial epidermolytic ichthyosis
Autosomal dominant
Infancy, Neonatal
Superficial siderosis
Not applicable
All ages
Susac syndrome
Unknown
All ages
Susceptibility to infection due to TYK2 deficiency
Autosomal recessive
Infancy
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Autosomal recessive
Infancy, Neonatal
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Autosomal recessive
Sweet syndrome
Multigenic/multifactorial
Adult
Symmetrical thalamic calcifications
Not applicable
Neonatal
Sympathetic ophthalmia
Not applicable
All ages
Symptomatic form of HFE-related hemochromatosis
Autosomal recessive
Adult
Symptomatic form of X-linked centronuclear myopathy in female carriers
Childhood, Infancy, Neonatal
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
X-linked recessive
Adult
Syndromic autoimmune enteropathy due to LRBA deficiency
Autosomal recessive
Childhood, Infancy
Syndromic congenital sodium diarrhea
Autosomal recessive
Antenatal, Neonatal
Syndromic multisystem autoimmune disease due to Itch deficiency
Autosomal recessive
Infancy, Neonatal
Syndromic recessive X-linked ichthyosis
X-linked recessive
Childhood
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Autosomal recessive
Neonatal
Synovial sarcoma
Not applicable
All ages