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

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

ORPHA:43115

IgA Nephropathy

Berger disease · Berger's disease

ORPHA:ORPHA:93567

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

ORPHA:34145

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446