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 ×

Autoimmune encephalitis

AE · AIE

ORPHA:622014

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

ORPHA:363549

Åland Islands eye disease

AIED · Forsius-Eriksson syndrome

ORPHA:178333