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"

103 matching diseasesClear search ×

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914

W syndrome

Pallister-W syndrome

ORPHA:2804

Wells syndrome

Eosinophilic cellulitis

ORPHA:901

White platelet syndrome

ORPHA:370131

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X small rings syndrome

ORPHA:96201

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469