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"

7 matching diseasesClear search ×

Anaplastic large cell lymphoma

ALCL · CD30 positive anaplastic large cell lymphoma

ORPHA:98841

Primary avascular necrosis

Primary AVN

ORPHA:399302

Primary cutaneous anaplastic large cell lymphoma

Primary C-ALCL · Regressive atypical histiocytosis

ORPHA:300865

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

ORPHA:289390

Primary systemic amyloidosis

Systemic AL amyloidosis

ORPHA:314701

Systemic polyarteritis nodosa

Systemic PAN · Systemic periarteritis nodosa

ORPHA:439762

Systemic primary carnitine deficiency

CDSP · CUD

ORPHA:158