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"

9 matching diseasesClear search ×

Familial hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

ORPHA:94086

Familial benign copper deficiency

Familial benign hypocupremia

ORPHA:1551

Familial hypercholanemia

Hereditary hypercholanemia

ORPHA:238475

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Familial hypocalciuric hypercalcemia type 1

FHH type 1

ORPHA:93372

Familial hypocalciuric hypercalcemia type 2

FHH type 2

ORPHA:101049

Familial hypocalciuric hypercalcemia type 3

FHH type 3

ORPHA:101050

Hereditary renal hypouricemia

Familial renal hypouricemia

ORPHA:94088