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 ×

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

ORPHA:79091

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Inclusion body myositis

IBM · Sporadic inclusion body myositis

ORPHA:611