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"

105 matching diseasesClear search ×

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Van der Woude syndrome

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

ORPHA:888

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

WT limb-blood syndrome

ORPHA:3466

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

ORPHA:3473