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"

6 matching diseasesClear search ×

DICER1 tumor-predisposition syndrome

PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

ORPHA:284343

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

ORPHA:404560

Pleuropulmonary blastoma

ORPHA:64742

Pleuropulmonary blastoma type 1

ORPHA:99933

Pleuropulmonary blastoma type 2

ORPHA:99934

Pleuropulmonary blastoma type 3

ORPHA:99935