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"

5 matching diseasesClear search ×

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

ORPHA:71273

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

ORPHA:123

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

ORPHA:63261

Kearns-Sayre syndrome

ORPHA:480

Partial deep dermal and full thickness burns

ORPHA:90076