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"

3 matching diseasesClear search ×

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

ORPHA:642691

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

ORPHA:93256

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330