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"

3 matching diseasesClear search ×

Osteosarcoma

Osteogenic sarcoma

ORPHA:668

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Oncogenic osteomalacia

Oncogenic hypophosphatemic osteomalacia · TIO

ORPHA:352540