Rare Disease Library

Congenital primary megaureter, nonrefluxing and unobstructed form

Congenital primary megaureter, obstructed form

Congenital primary megaureter, refluxing and obstructed form

Congenital primary megaureter, refluxing form

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

MYSM1 deficiency

Congenital pseudoarthrosis of the clavicle

Congenital pseudarthrosis of the clavicle

Congenital pseudoarthrosis of the femur

Congenital pseudarthrosis of the femur

Congenital pseudoarthrosis of the fibula

Congenital pseudarthrosis of the fibula

Congenital pseudoarthrosis of the radius

Congenital pseudarthrosis of the radius

Congenital pseudoarthrosis of the tibia

Congenital pseudarthrosis of the tibia

Congenital pseudoarthrosis of the ulna

Congenital pseudarthrosis of the ulna

Congenital ptosis

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital pulmonary veins anomaly

Congenital pulmonary veins atresia or stenosis

Congenital pulmonary venous return anomaly

Congenital pulmonary venous connection anomaly

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Congenital respiratory-biliary fistula

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

Congenital retinal arteriovenous communication

Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

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

FOSL2-related neurodevelopmental disorder

Congenital secondary polycythemia

Congenital secondary erythrocytosis

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital sialidosis type 2

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Congenital smooth muscle hamartoma

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Congenital stationary night blindness

Congenital essential nyctalopia

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

Congenital subglottic stenosis

Congenital sucrase-isomaltase deficiency

CSID · Congenital sucrose intolerance

Congenital supravalvular mitral ring

Congenital symblepharon

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Congenital systemic veins anomaly

Congenital temporomandibular joint ankylosis

Congenital trismus