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"

33 matching diseasesClear search ×

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

ORPHA:642071

Congenital aortic valve stenosis

ORPHA:3093

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

ORPHA:2037

Congenital cervical spinal stenosis

Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine

ORPHA:831

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

ORPHA:645749

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital mitral stenosis

ORPHA:99057

Congenital partial pulmonary venous return anomaly

ORPHA:99124

Congenital ptosis

ORPHA:91411

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

ORPHA:2414

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

ORPHA:3161

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

ORPHA:3189

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital pulmonary veins anomaly

ORPHA:98729

Congenital pulmonary veins atresia or stenosis

ORPHA:3188

Congenital pulmonary venous return anomaly

Congenital pulmonary venous connection anomaly

ORPHA:3090

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Congenital stenosis of the inferior vena cava

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

ORPHA:99122

Congenital subglottic stenosis

ORPHA:141121

Congenital total pulmonary venous return anomaly

ORPHA:99125

Congenital tracheal stenosis

ORPHA:141127

Congenital tricuspid stenosis

ORPHA:95459

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

ORPHA:99087

Extralobar congenital pulmonary sequestration

Congenital extrapulmonary sequestration · Extralobar congenital bronchopulmonary sequestration

ORPHA:280811

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Intralobar congenital pulmonary sequestration

Congenital intrapulmonary sequestration · Intralobar congenital bronchopulmonary sequestration

ORPHA:280802

Peripheral pulmonary stenosis

Branch pulmonary artery stenosis · Pulmonary branch stenosis

ORPHA:99084

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

ORPHA:185

Subpulmonary stenosis

ORPHA:3190

Supravalvular pulmonary stenosis

ORPHA:3192

Valvular pulmonary stenosis

ORPHA:99054