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"

9 matching diseasesClear search ×

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

ORPHA:757

Early-onset familial noncirrhotic portal hypertension

ORPHA:494348

Familial hypercholanemia

Hereditary hypercholanemia

ORPHA:238475

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Familial pseudohyperkalemia

ORPHA:90044

Familial pseudohyperkalemia type 1

ORPHA:100039

Heritable pulmonary arterial hypertension

Familial pulmonary arterial hypertension · FPAH

ORPHA:275777

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

ORPHA:422