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"

151 matching diseasesClear search ×

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

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

Salamon syndrome

ORPHA:1409

Worster-Drought syndrome

Congenital suprabulbar paresis

ORPHA:3465

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

X-linked intellectual disability, Snyder type

Snyder-Robinson syndrome

ORPHA:3063

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469