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 ×

Peripheral primitive neuroectodermal tumor

Peripheral neuroepithelioma · PPNET

ORPHA:370348

Benign schwannoma

Neurilemmoma · Neurilemoma

ORPHA:252164

Peripheral arteriovenous malformation

Peripheral AVM

ORPHA:708046

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

ORPHA:708051