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"

195 matching diseasesClear search ×

Weissenbacher-Zweymuller syndrome

Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome

ORPHA:3450

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Suarez-Stickler syndrome

ORPHA:166277

X-linked lethal multiple pterygium syndrome

ORPHA:79447