pseudohypoparathyroidism type 1C
A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0021154
dermis disorder
excluded_subClassOf
MONDO:0018379
primary avascular necrosis
is_a
MONDO:0018383
osteonecrosis of genetic origin
is_a
MONDO:0019695
acromelic dysplasia
is_a
MONDO:0019992
pseudohypoparathyroidism
is_a
MONDO:0800466
disorder of GNAS inactivation
is_a
PHP1C
related
pseudohypoparathyroidism Ic
exact
pseudohypoparathyroidism, type IC
related