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pseudohypoparathyroidism type 1C

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description Pseudohypoparathyroidism type 1c (PHP1c) is 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).
Uniprot Description A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification.
Mondo Term and Equivalent IDs
MONDO:0012911:  pseudohypoparathyroidism type 1C
GARD:0010681: 
MESH:C548076: 
Orphanet:79444: 
SCTID:717792007: 
UMLS:C2932716: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found