Rare Disease Library

Familial hypocalciuric hypercalcemia

FBH · FBHH

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

Benign hereditary chorea

BHC · Benign familial chorea

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

Familial benign copper deficiency

Familial benign hypocupremia

Familial benign flecked retina

Familial Hyperalphalipoproteinemia

Familial hypercholanemia

Hereditary hypercholanemia

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Genetic hyperferritinemia without iron overload

Benign hyperferritinemia

Hereditary renal hypouricemia

Familial renal hypouricemia

Homozygous familial hypercholesterolemia

HoFH

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP