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"

18 matching diseasesClear search ×

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Autoimmune enteropathy type 1 · IPEX

ORPHA:37042

Autoimmune hepatitis type 1

AIH type 1

ORPHA:563576

Autoimmune hepatitis type 2

AIH type 2

ORPHA:563581

Autoimmune pancreatitis type 1

AIP type 1 · IgG4-related pancreatitis

ORPHA:280302

Autoimmune pancreatitis type 2

AIP type 2 · Duct-centric pancreatitis

ORPHA:280315

Autoimmune polyendocrinopathy

APS · Autoimmune polyglandular syndrome

ORPHA:282196

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

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

Enteropathy-associated T-cell lymphoma

EATL · ETTL

ORPHA:86880

OBSOLETE: Autoimmune enteropathy type 2

ORPHA:103916

OBSOLETE: Autoimmune enteropathy type 3

ORPHA:103917

Primary autoimmune enteropathy

ORPHA:522037

Severe immune-mediated enteropathy

Autoimmune enteropathy · Immune-mediated protracted diarrhea of infancy

ORPHA:94075

Syndromic autoimmune enteropathy

ORPHA:522043

Syndromic autoimmune enteropathy due to LRBA deficiency

Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein

ORPHA:445018

Type 1 interferonopathy

ORPHA:477647