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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

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

ORPHA:508542Заболевание
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Заболевание
Not applicable

Congenital ptosis

ORPHA:91411Заболевание
Autosomal dominant, X-linked recessive

Congenital pulmonary airway malformation

ORPHA:2444Порок
Not applicable

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 pulmonary lymphangiectasia

ORPHA:2414Заболевание
Autosomal recessive

Congenital pulmonary sequestration

ORPHA:3161Порок

Congenital pulmonary valvar stenosis

ORPHA:3189Морф.
Multigenic/multifactorial, Not applicable

Congenital pulmonary veins atresia or stenosis

ORPHA:3188Клин. гр.
Not applicable

Congenital renal artery stenosis

ORPHA:97598Заболевание

Congenital respiratory-biliary fistula

ORPHA:2040Морф.
Not applicable

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Заболевание
Autosomal dominant

Congenital retinal arteriovenous communication

ORPHA:353334Морф.

Congenital rubella syndrome

ORPHA:290Заболевание
Not applicable

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

ORPHA:697356Порок
Autosomal dominant

Congenital secondary polycythemia

ORPHA:238536Кат.
Autosomal dominant, Autosomal recessive

Congenital short QT syndrome

ORPHA:51083Заболевание
Autosomal dominant