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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Stromal corneal dystrophy

ORPHA:98626Cat.
Autosomal dominant, Autosomal recessive

Stromme syndrome

ORPHA:506307Malform.
Autosomal recessive

Strongyloidiasis

ORPHA:76Disease
Not applicable

Structural heart defects-renal anomalies syndrome

ORPHA:689822Malform.
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Malform.
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Malform.
Autosomal recessive

Sub-cortical nodular heterotopia

ORPHA:101029Clin. sub.

Subacute cutaneous lupus erythematosus

ORPHA:163525Disease

Subacute inflammatory demyelinating polyneuropathy

ORPHA:206594Disease

Subacute sclerosing leukoencephalitis

ORPHA:2806Disease
Not applicable

Subaortic stenosis-short stature syndrome

ORPHA:3191Malform.

Subcorneal pustular dermatosis

ORPHA:48377Disease
Not applicable

Subcortical band heterotopia

ORPHA:99796Morph.
Autosomal recessive, Unknown, X-linked recessive

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Disease
Not applicable

Subependymal nodular heterotopia

ORPHA:101030Clin. sub.

Subependymoma

ORPHA:251639Disease

Subepithelial mucinous corneal dystrophy

ORPHA:98959Disease
Autosomal dominant

Submucosal cleft palate

ORPHA:155878Morph.

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Disease
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Disease
Autosomal recessive

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Malform.
Autosomal recessive

Sudden sensorineural hearing loss

ORPHA:90059Situation
Not applicable

Sugarman brachydactyly

ORPHA:498602Morph.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

ORPHA:308386Etio. sub.
Autosomal recessive