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"

4 matching diseasesClear search ×

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

ORPHA:667662

Epstein-Barr Virus-associated carcinoma

EBV-associated carcinoma

ORPHA:289651

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

ORPHA:208650

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330