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 ×

Duane retraction syndrome

DRS · DURS

ORPHA:233

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

ORPHA:157954

Okihiro syndrome

Duane-radial ray syndrome

ORPHA:93293

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881