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 ×

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

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

ORPHA:209886

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

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

ORPHA:300333

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

OBSOLETE: Familial flecked retinopathy

OBSOLETE: Hereditary flecked retinopathy

ORPHA:227786