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"

51 matching diseasesClear search ×

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

ORPHA:32960