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"

5 matching diseasesClear search ×

Hepatic veno-occlusive disease

Sinusoidal obstruction syndrome

ORPHA:890

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

ORPHA:2978

Congenital high airway obstruction syndrome

CHAOS

ORPHA:700286

OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome

OBSOLETE: CAVC-left heart obstruction syndrome

ORPHA:99066

Silent sinus syndrome

Imploding antrum syndrome · CMA grade 3

ORPHA:71276