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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"
Emanuel syndrome
Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome
Diethylstilbestrol syndrome
DES embryofetopathy · DES syndrome
Isolated hyperphalangy
Supernumerary phalanx · Isolated congenital supernumerary phalanges
Ring chromosome 22 syndrome
Ring chromosome 22 · Ring 22
Supernumerary breasts
Accessory breasts · Polymastia
Supernumerary kidney
Accessory kidney
Supernumerary nostril
Accessory nostril