familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
MONDO:0019705
obsolete primary bone dysplasia with defective bone mineralization (obsolete MONDO:0019705)
excluded_subClassOf
MONDO:0001566
hypercalcemia disease
is_a
MONDO:0005151
endocrine system disorder
is_a
MONDO:0017014
interstitial lung disease specific to childhood
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0031199
inherited interstitial lung disease
is_a
FBH
related
FBHH
related
FHH
related
familial benign hypercalcemia
exact
familial benign hypocalciuric hypercalcemia
exact
SPBC685.04c