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"

106 matching diseasesClear search ×

Torg-Winchester syndrome

ORPHA:3460

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Usher syndrome type 1

USH1

ORPHA:231169

Usher syndrome type 2

USH2

ORPHA:231178

Usher syndrome type 3

USH3

ORPHA:231183

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

ORPHA:895

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

Werner syndrome

Adult progeria · WS

ORPHA:902

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

ORPHA:3459

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088