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 ×

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

ORPHA:636941

Polymicrogyria

ORPHA:35981

Polymicrogyria with optic nerve hypoplasia

ORPHA:250972

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286