MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

Congenital primary megaureter, obstructed form

ORPHA:238646Clin. sub.
Unknown

Congenital primary megaureter, refluxing and obstructed form

ORPHA:544578Clin. sub.

Congenital primary megaureter, refluxing form

ORPHA:238650Clin. sub.
Unknown

Congenital pulmonary airway malformation type 0

ORPHA:280827Clin. sub.

Congenital pulmonary airway malformation type 1

ORPHA:280832Clin. sub.

Congenital pulmonary airway malformation type 2

ORPHA:280840Clin. sub.

Congenital pulmonary airway malformation type 3

ORPHA:280847Clin. sub.

Congenital pulmonary airway malformation type 4

ORPHA:280854Clin. sub.

Congenital sialidosis type 2

ORPHA:93400Clin. sub.
Autosomal recessive

Congenital symblepharon

ORPHA:98948Clin. sub.

Congenital thrombotic thrombocytopenic purpura

ORPHA:93583Clin. sub.
Autosomal recessive

Congenital vertical talus, bilateral

ORPHA:295203Clin. sub.
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Clin. sub.
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Clin. sub.
Autosomal dominant

Congenitally uncorrected transposition of the great arteries with cardiac malformation

ORPHA:216729Clin. sub.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with coarctation

ORPHA:99042Clin. sub.
Multigenic/multifactorial, Not applicable

Coralliform cataract

ORPHA:98990Clin. sub.
Autosomal dominant

Cowden syndrome

ORPHA:201Clin. sub.
Autosomal dominant

Cree leukoencephalopathy

ORPHA:99854Clin. sub.
Autosomal recessive

Crigler-Najjar syndrome type 1

ORPHA:79234Clin. sub.
Autosomal recessive

Crigler-Najjar syndrome type 2

ORPHA:79235Clin. sub.
Autosomal recessive

Cutaneous polyarteritis nodosa

ORPHA:439729Clin. sub.
Not applicable

Dent disease type 1

ORPHA:93622Clin. sub.
X-linked recessive

Dent disease type 2

ORPHA:93623Clin. sub.
X-linked recessive