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"

18 matching diseasesClear search ×

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

ORPHA:747

Congenital alveolar capillary dysplasia

ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins

ORPHA:210122

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

ORPHA:2037

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

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

ORPHA:642071

Pulmonary alveolar microlithiasis

ORPHA:60025

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

Secondary pulmonary alveolar proteinosis

Secondary PAP

ORPHA:420259

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease

ORPHA:440427