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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"
Mucocutaneous venous malformations
Cutaneous and mucosal venous malformation · VMCM
Hepatic cystic hamartoma
Biliary hamartoma · MHL
Ventriculomegaly-cystic kidney disease
Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD