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 ×

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

ORPHA:379

Chronic myeloid leukemia

CML · Chronic granulocytic leukemia

ORPHA:521

Granulomatosis with polyangiitis

GPA · Wegener granulomatosis

ORPHA:900

Langerhans cell histiocytosis

Histiocytosis X · Langerhans cell granulomatosis

ORPHA:389

Lymphomatoid granulomatosis

LYG

ORPHA:86869