MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Shiga toxin-associated hemolytic uremic syndrome

ORPHA:90038Kl. subt.
Not applicable

Short stature due to growth hormone qualitative anomaly

ORPHA:629Kl. subt.
Autosomal recessive

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ORPHA:632Kl. subt.
X-linked recessive

Sickle cell S-D Punjab disease

ORPHA:251370Kl. subt.
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Kl. subt.
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Kl. subt.

Sickle cell S-O Arab disease

ORPHA:700090Kl. subt.

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Kl. subt.

Single-organ polyarteritis nodosa

ORPHA:439755Kl. subt.
Not applicable

Single-system multifocal Langerhans cell histiocytosis

ORPHA:687738Kl. subt.
Not applicable

Sporadic porphyria cutanea tarda

ORPHA:443057Kl. subt.
Multigenic/multifactorial

Stevens-Johnson syndrome

ORPHA:36426Kl. subt.
Not applicable

Stickler syndrome type 1

ORPHA:90653Kl. subt.
Autosomal dominant

Stickler syndrome type 2

ORPHA:90654Kl. subt.
Autosomal dominant

Streptococcus pneumoniae-associated hemolytic uremic syndrome

ORPHA:544493Kl. subt.

Sub-cortical nodular heterotopia

ORPHA:101029Kl. subt.

Subependymal nodular heterotopia

ORPHA:101030Kl. subt.

Synpolydactyly type 1

ORPHA:295195Kl. subt.
Autosomal dominant

Synpolydactyly type 2

ORPHA:295197Kl. subt.
Autosomal dominant

Systemic polyarteritis nodosa

ORPHA:439762Kl. subt.
Not applicable

Tay-Sachs disease, adult form

ORPHA:309192Kl. subt.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Kl. subt.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Kl. subt.
Autosomal recessive

Telangiectasia macularis eruptiva perstans

ORPHA:90389Kl. subt.
Unknown