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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"
MUC1-related autosomal dominant tubulointerstitial kidney disease
MUC1-related medullary cystic kidney disease · MUCI-related ADTKD
MGP-related spondyloepiphyseal dysplasia
MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
REN-related autosomal dominant tubulointerstitial kidney disease
FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2
UMOD-related autosomal dominant tubulointerstitial kidney disease
UMOD-related ADTKD · ADTKD-UMOD