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

Congenital primary megaureter, obstructed form

ORPHA:238646Kl. subt.
Unknown

Congenital primary megaureter, refluxing and obstructed form

ORPHA:544578Kl. subt.

Congenital primary megaureter, refluxing form

ORPHA:238650Kl. subt.
Unknown

Congenital pulmonary airway malformation type 0

ORPHA:280827Kl. subt.

Congenital pulmonary airway malformation type 1

ORPHA:280832Kl. subt.

Congenital pulmonary airway malformation type 2

ORPHA:280840Kl. subt.

Congenital pulmonary airway malformation type 3

ORPHA:280847Kl. subt.

Congenital pulmonary airway malformation type 4

ORPHA:280854Kl. subt.

Congenital sialidosis type 2

ORPHA:93400Kl. subt.
Autosomal recessive

Congenital symblepharon

ORPHA:98948Kl. subt.

Congenital thrombotic thrombocytopenic purpura

ORPHA:93583Kl. subt.
Autosomal recessive

Congenital vertical talus, bilateral

ORPHA:295203Kl. subt.
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Kl. subt.
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Kl. subt.
Autosomal dominant

Congenitally uncorrected transposition of the great arteries with cardiac malformation

ORPHA:216729Kl. subt.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with coarctation

ORPHA:99042Kl. subt.
Multigenic/multifactorial, Not applicable

Coralliform cataract

ORPHA:98990Kl. subt.
Autosomal dominant

Cowden syndrome

ORPHA:201Kl. subt.
Autosomal dominant

Cree leukoencephalopathy

ORPHA:99854Kl. subt.
Autosomal recessive

Crigler-Najjar syndrome type 1

ORPHA:79234Kl. subt.
Autosomal recessive

Crigler-Najjar syndrome type 2

ORPHA:79235Kl. subt.
Autosomal recessive

Cutaneous polyarteritis nodosa

ORPHA:439729Kl. subt.
Not applicable

Dent disease type 1

ORPHA:93622Kl. subt.
X-linked recessive

Dent disease type 2

ORPHA:93623Kl. subt.
X-linked recessive