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 ×

Papillary intralymphatic angioendothelioma

PILA · Primary intralymphatic angioendothelioma

ORPHA:458768

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

ORPHA:ORPHA:873

GRFoma

GRF tumor · Growth hormone releasing factor tumor

ORPHA:97261