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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"
Dent disease
Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
Primary Fanconi renotubular syndrome
Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome