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Rare Disease Index

9,491 diseases

supranuclear oculomotor palsy

oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement

supratip dysplasia

supravalvular aortic stenosis

supravalvular pulmonary stenosis

Susac's syndrome

medical condition

susceptibility to infection due to TYK2 deficiency

susceptibility to localized juvenile periodontitis

susceptibility to respiratory infections associated with CD8alpha chain mutation

susceptibility to viral and mycobacterial infections

Sydenham's chorea

disorder characterized by rapid, uncoordinated jerking movements primarily affecting the face, hands and feet

Symbrachydactyly of hand and foot, bilateral

Symbrachydactyly of hand and foot, unilateral

Symbrachydactyly of hands and feet

symmetrical thalamic calcifications

Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness

sympathetic ophthalmia

symphalangism with multiple anomalies of hands and feet

symptomatic form of Coffin-Lowry syndrome in female carriers

symptomatic form of fragile X syndrome in female carrier

symptomatic form of hemophilia a in female carriers

gene (Xq28), encoding coagulation factor VIII

symptomatic form of hemophilia b in female carriers

gene (Xq28), encoding coagulation factor IX

symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

synostosis that results in the fusion of two or more digits

syndactyly type 3

syndactyly type 4

syndactyly type 5

syndactyly type 8

syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

syndactyly-polydactyly-ear lobe syndrome

syndesmodysplasic dwarfism

syndrome associated with dilated cardiomyopathy

Page 288 of 317 (9,491 total)

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