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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 hyperferritinemia-cataract syndrome
Hereditary hyperferritinemia-cataract disease · HHCS
Familial hypercholanemia
Hereditary hypercholanemia
Genetic cystic renal disease
Hereditary cystic renal disease
Genetic hyperferritinemia without iron overload
Benign hyperferritinemia
Hereditary progressive cardiac conduction defect
Hereditary Lenègre disease · Hereditary Lev disease