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"

4 matching diseasesClear search ×

Multiple myeloma

Kahler disease · Medullary plasmacytoma

ORPHA:29073

Distomatosis

Distomiasis · Fluke infection

ORPHA:1685

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Myeloschisis

ORPHA:645398