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 ×

Malignant peripheral nerve sheath tumor

MPNST · Malignant neurilemmoma

ORPHA:3148

Hinman syndrome

HAS · HS

ORPHA:84085

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

ORPHA:100073

Osteosarcoma

Osteogenic sarcoma

ORPHA:668