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 ×

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

W syndrome

Pallister-W syndrome

ORPHA:2804

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

ORPHA:3447

Werner syndrome

Adult progeria · WS

ORPHA:902

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291