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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 727 заболеваний (Клин. подт.) Сброс

Congenital primary megaureter, obstructed form

ORPHA:238646Клин. подт.
Unknown

Congenital primary megaureter, refluxing and obstructed form

ORPHA:544578Клин. подт.

Congenital primary megaureter, refluxing form

ORPHA:238650Клин. подт.
Unknown

Congenital pulmonary airway malformation type 0

ORPHA:280827Клин. подт.

Congenital pulmonary airway malformation type 1

ORPHA:280832Клин. подт.

Congenital pulmonary airway malformation type 2

ORPHA:280840Клин. подт.

Congenital pulmonary airway malformation type 3

ORPHA:280847Клин. подт.

Congenital pulmonary airway malformation type 4

ORPHA:280854Клин. подт.

Congenital sialidosis type 2

ORPHA:93400Клин. подт.
Autosomal recessive

Congenital symblepharon

ORPHA:98948Клин. подт.

Congenital thrombotic thrombocytopenic purpura

ORPHA:93583Клин. подт.
Autosomal recessive

Congenital vertical talus, bilateral

ORPHA:295203Клин. подт.
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Клин. подт.
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Клин. подт.
Autosomal dominant

Congenitally uncorrected transposition of the great arteries with cardiac malformation

ORPHA:216729Клин. подт.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with coarctation

ORPHA:99042Клин. подт.
Multigenic/multifactorial, Not applicable

Coralliform cataract

ORPHA:98990Клин. подт.
Autosomal dominant

Cowden syndrome

ORPHA:201Клин. подт.
Autosomal dominant

Cree leukoencephalopathy

ORPHA:99854Клин. подт.
Autosomal recessive

Crigler-Najjar syndrome type 1

ORPHA:79234Клин. подт.
Autosomal recessive

Crigler-Najjar syndrome type 2

ORPHA:79235Клин. подт.
Autosomal recessive

Cutaneous polyarteritis nodosa

ORPHA:439729Клин. подт.
Not applicable

Dent disease type 1

ORPHA:93622Клин. подт.
X-linked recessive

Dent disease type 2

ORPHA:93623Клин. подт.
X-linked recessive