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Summary Literature (0)
DOID:4184 - pseudohypoparathyroidism

Disease Ontology Definition:A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.

Synonyms: PHP

Xenbase Genes : gnas, stx16

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019992 - pseudohypoparathyroidism

MIM:
MIM:603233 - PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
MIM:612462 - PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): metal metabolism disorder (is_a)