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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"
Persistent hyperplastic primary vitreous
Non-syndromic congenital retinal non-attachment · PFVS
Fetal encasement syndrome
Fetal valproate spectrum disorder
Fetal valproic acid syndrome · Valproic acid embryopathy
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
MPPC syndrome
Persistent Müllerian duct syndrome
PMDS · Persistent Müllerian derivatives
Robinow syndrome
Acral dysostosis with facial and genital abnormalities · Fetal face syndrome