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"

10 matching diseasesClear search ×

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

Bleeding diathesis due to integrin alpha2-beta1 deficiency

ORPHA:98886

Congenital alpha2-antiplasmin deficiency

ORPHA:79

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

ORPHA:1214

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

ORPHA:756