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"

200 matching diseasesClear search ×

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

ORPHA:97282

W syndrome

Pallister-W syndrome

ORPHA:2804

West syndrome

ORPHA:3451

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469