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"

101 matching diseasesClear search ×

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Toxic epidermal necrolysis

Lyell syndrome

ORPHA:537

W syndrome

Pallister-W syndrome

ORPHA:2804

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436