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 ×

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

Wolfram-like syndrome

ORPHA:411590

WT limb-blood syndrome

ORPHA:3466

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

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome

ORPHA:3471