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 ×

W syndrome

Pallister-W syndrome

ORPHA:2804

Waardenburg syndrome

ORPHA:3440

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Weaver-like syndrome

ORPHA:3446

West syndrome

ORPHA:3451

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469