Rare Disease Library

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"

5 matching diseasesClear search ×

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

ORPHA:93111

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

ORPHA:34149

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

ORPHA:88949

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

ORPHA:88950