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"

5 matching diseasesClear search ×

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

ORPHA:623626

Primary ciliary dyskinesia

PCD

ORPHA:244

Primary cutaneous diffuse large B-cell lymphoma, leg type

Diffuse large B-cell lymphoma · DLBCL

ORPHA:178544

Pachyonychia congenita

PC

ORPHA:2309

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973