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 ×

Weaver-like syndrome

ORPHA:3446

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Wolfram-like syndrome

ORPHA:411590

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

ORPHA:1409

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome

ORPHA:3472