Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

19 matching diseasesClear search ×

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary airway malformation type 0

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

ORPHA:280827

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

ORPHA:280832

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

ORPHA:280840

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

ORPHA:280847

Congenital pulmonary airway malformation type 4

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

ORPHA:280854

Choledochal cyst

Congenital cystic dilatation of the biliary tract

ORPHA:480501

Congenital anomaly of superior vena cava

Congenital anomaly of superior caval vein · Congenital anomaly of the SVC

ORPHA:95498

Congenital anomaly of the inferior vena cava

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

ORPHA:95499

Congenital limb malformation

ORPHA:68378

Congenital malformation of the eye with glaucoma as a major feature

ORPHA:98631

Congenital malformation of the eyelid

ORPHA:98561

Congenital mitral malformation

ORPHA:2447

Congenital thyroid malformation without hypothyroidism

ORPHA:95718

Congenital tricuspid malformation

ORPHA:98721

Coronary artery congenital malformation

ORPHA:1081

Genetic congenital limb malformation

ORPHA:183536

Genetic congenital malformation of the eye with glaucoma as a major feature

ORPHA:525677

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846