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

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

ORPHA:693661

Autoimmune polyendocrinopathy

APS · Autoimmune polyglandular syndrome

ORPHA:282196

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

ORPHA:3143

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

ORPHA:227982

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

ORPHA:227990