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"

2 matching diseasesClear search ×

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

ORPHA:757

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682