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 ×

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

ORPHA:300333

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

ORPHA:371207

IgA Nephropathy

Berger disease · Berger's disease

ORPHA:ORPHA:93567

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

ORPHA:34145

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886