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 ×

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

ORPHA:2768

Osgood-Schlatter disease

Aseptic necrosis of the tibial tubercle · Osteochondrosis of the tibial tubercle

ORPHA:97335

Osteochondrosis

ORPHA:399319

Sinding-Larsen-Johansson disease

Aseptic necrosis of patella · Osteochondrosis of patella

ORPHA:97337