MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Stromal corneal dystrophy

ORPHA:98626Kat.
Autosomal dominant, Autosomal recessive

Stromme syndrome

ORPHA:506307Malf.
Autosomal recessive

Strongyloidiasis

ORPHA:76Kr.
Not applicable

Structural heart defects-renal anomalies syndrome

ORPHA:689822Malf.
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Malf.
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Malf.
Autosomal recessive

Sub-cortical nodular heterotopia

ORPHA:101029Kl. subt.

Subacute cutaneous lupus erythematosus

ORPHA:163525Kr.

Subacute inflammatory demyelinating polyneuropathy

ORPHA:206594Kr.

Subacute sclerosing leukoencephalitis

ORPHA:2806Kr.
Not applicable

Subaortic stenosis-short stature syndrome

ORPHA:3191Malf.

Subcorneal pustular dermatosis

ORPHA:48377Kr.
Not applicable

Subcortical band heterotopia

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

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Kr.
Not applicable

Subependymal nodular heterotopia

ORPHA:101030Kl. subt.

Subependymoma

ORPHA:251639Kr.

Subepithelial mucinous corneal dystrophy

ORPHA:98959Kr.
Autosomal dominant

Submucosal cleft palate

ORPHA:155878Morph.

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Kr.
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Kr.
Autosomal recessive

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Malf.
Autosomal recessive

Sudden sensorineural hearing loss

ORPHA:90059spez. Sit.
Not applicable

Sugarman brachydactyly

ORPHA:498602Morph.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

ORPHA:308386Ätl. subt.
Autosomal recessive