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 ×

Central nervous system embryonal tumor

CNS PNET · Central nervous system primitive neuroectodermal tumor

ORPHA:251870

Neuroendocrine tumor of pancreas

Well-differentiated pancreatic neuroendocrine neoplasm · Well-differentiated NEN of pancreas

ORPHA:97253

Peripheral primitive neuroectodermal tumor

Peripheral neuroepithelioma · PPNET

ORPHA:370348