MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Subcorneal pustular dermatosis

ORPHA:48377Kr.
Not applicable

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Kr.
Not applicable

Subependymoma

ORPHA:251639Kr.

Subepithelial mucinous corneal dystrophy

ORPHA:98959Kr.
Autosomal dominant

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Kr.
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Kr.
Autosomal recessive

Superficial epidermolytic ichthyosis

ORPHA:455Kr.
Autosomal dominant

Superficial siderosis

ORPHA:247245Kr.
Not applicable

Susac syndrome

ORPHA:838Kr.
Unknown

Susceptibility to infection due to TYK2 deficiency

ORPHA:331226Kr.
Autosomal recessive

Susceptibility to respiratory infections associated with CD8alpha chain mutation

ORPHA:169085Kr.
Autosomal recessive

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

ORPHA:391311Kr.
Autosomal recessive

Sweet syndrome

ORPHA:3243Kr.
Multigenic/multifactorial

Symmetrical thalamic calcifications

ORPHA:1314Kr.
Not applicable

Sympathetic ophthalmia

ORPHA:79098Kr.
Not applicable

Symptomatic form of HFE-related hemochromatosis

ORPHA:465508Kr.
Autosomal recessive

Symptomatic form of X-linked centronuclear myopathy in female carriers

ORPHA:604680Kr.

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

ORPHA:206546Kr.
X-linked recessive

Syndromic autoimmune enteropathy due to LRBA deficiency

ORPHA:445018Kr.
Autosomal recessive

Syndromic congenital sodium diarrhea

ORPHA:563708Kr.
Autosomal recessive

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426Kr.
Autosomal recessive

Syndromic recessive X-linked ichthyosis

ORPHA:281090Kr.
X-linked recessive

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

ORPHA:457223Kr.
Autosomal recessive

Synovial sarcoma

ORPHA:3273Kr.
Not applicable