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"

9 matching diseasesClear search ×

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

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

ORPHA:88950

Autosomal dominant polycystic kidney disease

ADPKD

ORPHA:730

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Medullar disease

ORPHA:102000

Medullary sponge kidney

Cacchi-Ricci disease · MSK

ORPHA:1309

Rare genetic medullar disease

ORPHA:183515

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD

ORPHA:443988