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"

103 matching diseasesClear search ×

Werner syndrome

Adult progeria · WS

ORPHA:902

West syndrome

ORPHA:3451

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

White platelet syndrome

ORPHA:370131

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

ORPHA:468678

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469