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 ×

West syndrome

ORPHA:3451

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

ORPHA:3463

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469