Rare Disease Library

Subacute sclerosing leukoencephalitis

Dawson encephalitis · SSPE

Subaortic course of innominate vein

Subaortic course of brachiocephalic vein

Subaortic stenosis-short stature syndrome

Onat syndrome

Subcorneal pustular dermatosis

Subcorneal pustular dermatitis · Pustulosis subcornealis

Subcortical band heterotopia

Subcortical laminar heterotopia

Subcutaneous panniculitis-like T-cell lymphoma

SPTCL · Subcutaneous panniculitic T-cell lymphoma

Subcutaneous tissue disease

Subependymal giant cell astrocytoma

SEGA

Subependymal nodular heterotopia

Subependymoma

Subepithelial mucinous corneal dystrophy

SMCD

Submucosal cleft palate

Subpulmonary stenosis

Succinic acidemia

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Sudden infant death-dysgenesis of the testes syndrome

SIDDT

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

Sugarman brachydactyly

Sugarman-Hager-Kulik syndrome

Sulfation-related bone disorder

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · MOCOD type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C

Summitt syndrome

SUNCT syndrome

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing

Superficial corneal dystrophy

Anterior corneal dystrophy

Superficial epidermolytic ichthyosis

Ichthyosis bullosa of Siemens · SEI

Superficial fibromatosis

Superficial pemphigus

Superficial siderosis

Superficial siderosis of the CNS · Superficial hemosiderosis of the CNS

Superior limbic keratoconjunctivitis

SLK · Theodore superior limbic keratoconjunctivitis

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

Supernumerary breasts

Accessory breasts · Polymastia

Supernumerary kidney

Accessory kidney

Supernumerary nostril

Accessory nostril

Supranuclear eye movement disorder

Supratip dysplasia

Supravalvular aortic stenosis

SVAS

Supravalvular pulmonary stenosis

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

Susac syndrome

Retinocochleocerebral vasculopathy

Susceptibility to infection due to TYK2 deficiency

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

STAT1 deficiency · Predisposition to severe viral infection due to STAT1 deficiency

Sweet syndrome

Acute febrile neutrophilic dermatosis

Sydenham chorea

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome