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"

6 matching diseasesClear search ×

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Autoimmune hypoparathyroidism

ORPHA:36913

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

ORPHA:3143

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

ORPHA:2237

Syndrome with hypoparathyroidism

ORPHA:181402