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"

11 matching diseasesClear search ×

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

ORPHA:556030

Early-onset familial noncirrhotic portal hypertension

ORPHA:494348

Familial hyperaldosteronism

FH

ORPHA:235936

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Familial hyperaldosteronism type II

FH-II · FH2

ORPHA:404

Familial hyperaldosteronism type III

FH-III · FH3

ORPHA:251274

Familial hyperaldosteronism type IV

FH4

ORPHA:642671

Familial hypoaldosteronism

ORPHA:427

Late-onset familial hypoaldosteronism

Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism

ORPHA:556037

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

ORPHA:99764