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"

3 matching diseasesClear search ×

Familial renal glucosuria

Familial renal glycosuria · SGLT2 deficiency

ORPHA:69076

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary renal hypouricemia

Familial renal hypouricemia

ORPHA:94088