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"

20 matching diseasesClear search ×

Severe immune-mediated enteropathy

Autoimmune enteropathy · Immune-mediated protracted diarrhea of infancy

ORPHA:94075

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Autoimmune enteropathy type 1 · IPEX

ORPHA:37042

OBSOLETE: Autoimmune enteropathy type 2

ORPHA:103916

OBSOLETE: Autoimmune enteropathy type 3

ORPHA:103917

Primary autoimmune enteropathy

ORPHA:522037

STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

ORPHA:391487

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

Autoimmune encephalitis

AE · AIE

ORPHA:622014

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

ORPHA:698945

Autoimmune hepatitis

AIH

ORPHA:2137

Autoimmune hypoparathyroidism

ORPHA:36913

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

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

ORPHA:747

Autoimmune/inflammatory optic neuropathy

ORPHA:499047

NK-cell enteropathy

ORPHA:263665