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"

50 matching diseasesClear search ×

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome

ORPHA:50812