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"

7 matching diseasesClear search ×

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

ORPHA:667662

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

ORPHA:642691

HIV-associated cancer

HIV-related cancer

ORPHA:443291

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

ORPHA:208650

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886