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"

21 matching diseasesClear search ×

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

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

ORPHA:88660

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

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

Genetic hyperaldosteronism

ORPHA:371861

Liddle syndrome

Pseudoaldosteronism

ORPHA:526

Pseudohypoaldosteronism

ORPHA:444916

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

Pseudohypoparathyroidism type 2

ORPHA:94090

Rare primary hyperaldosteronism

Rare primary aldosteronism

ORPHA:181415

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

ORPHA:171871

Transient pseudohypoaldosteronism

TPHA · Secondary pseudohypoaldosteronism

ORPHA:93164