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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"
Hereditary butyrylcholinesterase deficiency
Hereditary pseudocholinesterase deficiency
Aceruloplasminemia
Hereditary ceruloplasmin deficiency
Hereditary arginine vasopressin deficiency
Hereditary CDI · Hereditary neurogenic diabetes insipidus
Hereditary fructose intolerance
Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia