Rare Disease Library

Hereditary renal hypouricemia

Familial renal hypouricemia

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Familial benign copper deficiency

Familial benign hypocupremia

Familial hypercholanemia

Hereditary hypercholanemia

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Familial hypodysfibrinogenemia

Familial hypofibrinogenemia

Familial renal glucosuria

Familial renal glycosuria · SGLT2 deficiency

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP