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

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Weaver-like syndrome

ORPHA:3446

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Wolfram-like syndrome

ORPHA:411590

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469