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 ×

Cardiac-valvular Ehlers-Danlos syndrome

Cardiac-valvular EDS · cvEDS

ORPHA:230851

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

ORPHA:275517

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

ORPHA:287

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286