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"

149 matching diseasesClear search ×

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

W syndrome

Pallister-W syndrome

ORPHA:2804

Werner syndrome

Adult progeria · WS

ORPHA:902

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469