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 ×

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

ORPHA:757

Pulmonary arterial hypertension associated with portal hypertension

PAH · PAH associated with portal hypertension

ORPHA:275813

Rare cause of hypertension

ORPHA:93618

Rare pulmonary hypertension

ORPHA:71198