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 ×

Usher syndrome type 2

USH2

ORPHA:231178

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914

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