Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Stromal corneal dystrophy
Autosomal dominant, Autosomal recessive
All ages
Stromme syndrome
Autosomal recessive
Antenatal
Strongyloidiasis
Not applicable
All ages
Structural heart defects-renal anomalies syndrome
Autosomal recessive
Antenatal, Neonatal
Sturge-Weber syndrome
Not applicable
Antenatal, Neonatal
Stüve-Wiedemann syndrome
Autosomal recessive
Antenatal, Neonatal
Sub-cortical nodular heterotopia
Antenatal, Infancy, Neonatal
Subacute cutaneous lupus erythematosus
Adult, Elderly
Subacute inflammatory demyelinating polyneuropathy
All ages
Subacute sclerosing leukoencephalitis
Not applicable
All ages
Subaortic stenosis-short stature syndrome
Neonatal
Subcorneal pustular dermatosis
Not applicable
Adult
Subcortical band heterotopia
Autosomal recessive, Unknown, X-linked recessive
Subcutaneous panniculitis-like T-cell lymphoma
Not applicable
All ages
Subependymal nodular heterotopia
Antenatal, Infancy, Neonatal
Subependymoma
Adult
Subepithelial mucinous corneal dystrophy
Autosomal dominant
Childhood
Submucosal cleft palate
Succinic semialdehyde dehydrogenase deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Autosomal recessive
Infancy, Neonatal
Sudden infant death-dysgenesis of the testes syndrome
Autosomal recessive
Infancy, Neonatal
Sudden sensorineural hearing loss
Not applicable
All ages
Sugarman brachydactyly
Infancy, Neonatal
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Autosomal recessive