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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"
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Prieto-Badia-Mulas syndrome
Biliary atresia with splenic malformation syndrome
BASM syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
Odontomatosis-aortae esophagus stenosis syndrome
Bader syndrome