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"

8 matching diseasesClear search ×

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

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

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Autoimmune enteropathy type 1 · IPEX

ORPHA:37042

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

ORPHA:2905

Polyendocrine-polyneuropathy syndrome

ORPHA:453533