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 ×

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

ORPHA:209943

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

ORPHA:40923

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

ORPHA:644

Recurrent idiopathic neuroretinitis

RINR

ORPHA:499103