Rare Disease Library

Staphylococcal toxic-shock syndrome

Staphylococcal TSS

Stargardt disease

Fundus flavimaculatus · Stargardt 1

STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

STAT3-related early-onset multisystem autoimmune disease

Steatocystoma multiplex-natal teeth syndrome

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Stellate multiform amelanotic choroidopathy

Serous maculopathy due to aspecific choroidopathy · SMACH

Sterile multifocal osteomyelitis with periostitis and pustulosis

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA

Sternal cleft

Cleft sternum · Sternum bifidum

Sternal malformation-vascular dysplasia syndrome

Steroid dehydrogenase deficiency-dental anomalies syndrome

Lyngstadaas syndrome

Steroid-responsive encephalopathy associated with autoimmune thyroiditis

Hashimoto encephalitis · SREAT

Steroid-sensitive nephrotic syndrome without renal biopsy

Sterol biosynthesis disorder

Sterol metabolism disorder

Sterol metabolism disorder with epilepsy

Stevens-Johnson syndrome

Dermatostomatitis, Stevens Johnson type

Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

Stevens-Johnson/toxic epidermal necrolysis overlap syndrome · SJS/TEN overlap syndrome

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

SJS-TEN · Epidermal necrolysis

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stickler syndrome type 1

Stickler syndrome type 2

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome

Stiff skin syndrome

Stimmler syndrome

STING-associated vasculopathy with onset in infancy

SAVI

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

Straddling and/or overriding mitral valve

Straddling or overriding tricuspid valve

Streptobacillary rat-bite fever

Streptococcal toxic-shock syndrome

Streptococcal TSS

Streptococcus pneumoniae-associated hemolytic uremic syndrome

S. pneumoniae-associated HUS · SP-HUS

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

Stromal corneal dystrophy

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

Strongyloidiasis

Anguilluliasis · Anguillulosis

Structural developmental eye defect

Structural developmental eye defect of genetic origin

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

STXBP1-related encephalopathy

Sub-cortical nodular heterotopia

Subacute cutaneous lupus erythematosus

Subacute inflammatory demyelinating polyneuropathy

Subacute inflammatory demyelinating polyradiculoneuropathy