MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Staphylococcal toxemia

ORPHA:300579Cat.

Staphylococcal toxic-shock syndrome

ORPHA:99919Etio. sub.
Not applicable

Stargardt disease

ORPHA:827Disease
Autosomal dominant, Autosomal recessive

Steatocystoma multiplex-natal teeth syndrome

ORPHA:3184Malform.
Autosomal dominant

Steel syndrome

ORPHA:438117Disease
Autosomal recessive

Steinert myotonic dystrophy

ORPHA:273Disease
Autosomal dominant

Stellate multiform amelanotic choroidopathy

ORPHA:674958Disease

Sterile multifocal osteomyelitis with periostitis and pustulosis

ORPHA:210115Disease
Autosomal recessive

Sternal cleft

ORPHA:2017Morph.
Not applicable

Steroid dehydrogenase deficiency-dental anomalies syndrome

ORPHA:3196Disease
Autosomal recessive

Steroid-responsive encephalopathy associated with autoimmune thyroiditis

ORPHA:83601Disease
Not applicable

Stevens-Johnson syndrome

ORPHA:36426Clin. sub.
Not applicable

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

ORPHA:95455Disease
Not applicable

Stickler syndrome

ORPHA:828Disease
Autosomal dominant, Autosomal recessive

Stickler syndrome type 1

ORPHA:90653Clin. sub.
Autosomal dominant

Stickler syndrome type 2

ORPHA:90654Clin. sub.
Autosomal dominant

Stiff person spectrum disorder

ORPHA:3198Disease
Not applicable

Stiff skin syndrome

ORPHA:2833Disease
Autosomal dominant

Stimmler syndrome

ORPHA:3199Malform.
Autosomal recessive

Stormorken-Sjaastad-Langslet syndrome

ORPHA:3204Disease
Autosomal dominant

Streptobacillary rat-bite fever

ORPHA:99905Etio. sub.

Streptococcal toxic-shock syndrome

ORPHA:99918Etio. sub.
Not applicable

Streptococcus pneumoniae-associated hemolytic uremic syndrome

ORPHA:544493Clin. sub.

Striate palmoplantar keratoderma

ORPHA:50942Disease
Autosomal dominant