pseudohypoparathyroidism type 1A
A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0021154
dermis disorder
excluded_subClassOf
MONDO:0019695
acromelic dysplasia
is_a
MONDO:0019992
pseudohypoparathyroidism
is_a
MONDO:0800466
disorder of GNAS inactivation
is_a
AHO
related
AHO-PHP syndrome Ia
exact
Albright hereditary osteodystrophy
exact
Albright hereditary osteodystrophy with multiple hormone resistance
exact
Albright hereditary osteodystrophy-PHP syndrome Ia
exact
PHP1A
exact
Pseudohypoparathyroidism Ia
exact
Pseudohypoparathyroidism type 1A
exact
Pseudohypoparathyroidism, type IA
related