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"

15 matching diseasesClear search ×

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Achalasia-alacrimia syndrome

ORPHA:99777

Acquired chronic primary adrenal insufficiency

ORPHA:101963

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

ORPHA:95409

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

ORPHA:1102

Bangstad syndrome

Ataxia-diabetes-goiter-gonadal insufficiency syndrome

ORPHA:1227

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

ORPHA:101959

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

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

ORPHA:506334

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

ORPHA:506358

Genetic chronic primary adrenal insufficiency

ORPHA:101960

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483

Lamb-Shaffer syndrome

SOX5 haploinsufficiency syndrome

ORPHA:530983

PDE4D haploinsufficiency syndrome

ORPHA:439822

Primary adrenal insufficiency

ORPHA:101958