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"

27 matching diseasesClear search ×

Familial hyperaldosteronism type II

FH-II · FH2

ORPHA:404

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

ORPHA:178345

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

ORPHA:556030

Familial hyperaldosteronism

FH

ORPHA:235936

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Familial hyperaldosteronism type III

FH-III · FH3

ORPHA:251274

Familial hyperaldosteronism type IV

FH4

ORPHA:642671

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Familial hypoaldosteronism

ORPHA:427

Familial hypocalciuric hypercalcemia type 2

FHH type 2

ORPHA:101049

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

Genetic hyperaldosteronism

ORPHA:371861

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2

ORPHA:88660

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

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

ORPHA:756

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

ORPHA:757

Pseudohypoaldosteronism type 2A

PHA2A

ORPHA:88938

Pseudohypoaldosteronism type 2B

PHA2B

ORPHA:88939

Pseudohypoaldosteronism type 2C

PHA2C

ORPHA:88940

Pseudohypoaldosteronism type 2D

PHA2D

ORPHA:300525

Pseudohypoaldosteronism type 2E

PHA2E

ORPHA:300530

Rare hypoaldosteronism

ORPHA:181419

Rare primary hyperaldosteronism

Rare primary aldosteronism

ORPHA:181415

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

ORPHA:171871