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"

14 matching diseasesClear search ×

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

ORPHA:3143

Autoimmune hepatitis type 2

AIH type 2

ORPHA:563581

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 3

APS type 3 · APS3

ORPHA:227982

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

ORPHA:227990

Cockayne syndrome type 2

Cockayne syndrome type II

ORPHA:90322

Insulin autoimmune syndrome

Hirata disease

ORPHA:411593

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

ORPHA:2578

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

ORPHA:642976

Pfeiffer syndrome type 2

ORPHA:93259

Polyendocrine-polyneuropathy syndrome

ORPHA:453533

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269