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 ×

Laubry-Pezzi syndrome

VSD with aortic insufficiency · Ventricular septal defect with aortic insufficiency

ORPHA:99094

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

ORPHA:95409

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

ORPHA:101959

OBSOLETE: Congenital aortic valve insufficiency

ORPHA:95449

Placental insufficiency

Uteroplacental vascular insufficiency

ORPHA:439167