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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"
Oculoectodermal syndrome
Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome
Acromelic frontonasal dysplasia
Acromelic frontonasal dysostosis · AFND
Chondrodysplasia punctata, Toriello type
Toriello-Higgins-Miller syndrome
Costello syndrome
FCS syndrome · Faciocutaneoskeletal syndrome
Kapur-Toriello syndrome
Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome