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 ×

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

ORPHA:71273

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

ORPHA:1031

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

ORPHA:60039

Radio-renal syndrome

ORPHA:3015