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"

16 matching diseasesClear search ×

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Acquired cystic disease-associated renal cell carcinoma

Kidney cancer · RCC

ORPHA:404514

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

ORPHA:34149

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

ORPHA:422526

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

ORPHA:163

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

ORPHA:411602

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

ORPHA:871

Hereditary renal hypouricemia

Familial renal hypouricemia

ORPHA:94088

Rare genetic renal disease

ORPHA:98056

Rare hereditary autoinflammatory disease

ORPHA:619238

Rare hereditary connective tissue disease

ORPHA:619249

Rare renal disease

ORPHA:93626

Renal disease with cataract

ORPHA:98646

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia

ORPHA:903