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 ×

Polymerase proofreading-related polyposis

Polymerase proofreading-related adenomatous polyposis · PPAP

ORPHA:447877

Primary progressive aphasia

Mesulam syndrome · PPA

ORPHA:95432

Primary progressive apraxia of speech

PPAOS

ORPHA:314566