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"

14 matching diseasesClear search ×

Primary adrenal insufficiency

ORPHA:101958

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

SPLIS · Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency

ORPHA:506334

Acquired chronic primary adrenal insufficiency

ORPHA:101963

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

ORPHA:101959

Genetic chronic primary adrenal insufficiency

ORPHA:101960

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

ORPHA:95409

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

ORPHA:642691

Placental insufficiency

Uteroplacental vascular insufficiency

ORPHA:439167

Primary CD59 deficiency

ORPHA:169464

Primary immunodeficiency

ORPHA:101997

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency due to MCM4 deficiency

ORPHA:75391

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869