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 ×

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286

Cardiac-valvular Ehlers-Danlos syndrome

Cardiac-valvular EDS · cvEDS

ORPHA:230851

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

ORPHA:75497