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"

4 matching diseasesClear search ×

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

ORPHA:693681

Activated PI3K-delta syndrome

PASLI · APDS

ORPHA:397596

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 type 2

APS type 2 · APS2

ORPHA:3143