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"

15 matching diseasesClear search ×

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Autoimmune bullous skin disease

ORPHA:79669

Autoimmune disease with skin involvement

ORPHA:315350

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

ORPHA:698945

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

ORPHA:3143

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

ORPHA:747

Chylomicron retention disease

Anderson disease · CMRD

ORPHA:71

Dianzani autoimmune lymphoproliferative disease

DALD

ORPHA:275523

OBSOLETE: Vitiligo-associated autoimmune disease

ORPHA:247871

Postinfectious autoimmune disease with chorea

ORPHA:306727

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases

ORPHA:562639

Rare immune disease

ORPHA:98004

Secondary neonatal autoimmune disease

Transplacentally acquired neonatal autoimmune disease

ORPHA:398091

Systemic autoimmune disease

ORPHA:182228