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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

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 progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

ORPHA:508542Disease
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Disease
Not applicable

Congenital ptosis

ORPHA:91411Disease
Autosomal dominant, X-linked recessive

Congenital pulmonary airway malformation

ORPHA:2444Malform.
Not applicable

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 pulmonary lymphangiectasia

ORPHA:2414Disease
Autosomal recessive

Congenital pulmonary sequestration

ORPHA:3161Malform.

Congenital pulmonary valvar stenosis

ORPHA:3189Morph.
Multigenic/multifactorial, Not applicable

Congenital pulmonary veins atresia or stenosis

ORPHA:3188Clin. grp.
Not applicable

Congenital renal artery stenosis

ORPHA:97598Disease

Congenital respiratory-biliary fistula

ORPHA:2040Morph.
Not applicable

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Disease
Autosomal dominant

Congenital retinal arteriovenous communication

ORPHA:353334Morph.

Congenital rubella syndrome

ORPHA:290Disease
Not applicable

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

ORPHA:697356Malform.
Autosomal dominant

Congenital secondary polycythemia

ORPHA:238536Cat.
Autosomal dominant, Autosomal recessive

Congenital short QT syndrome

ORPHA:51083Disease
Autosomal dominant