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DOID:0080053 - pseudohypoparathyroidism type 1A
Disease Ontology Definition:A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.
Synonyms: Albright hereditary osteodystrophy, pseudohypoparathyroidism type 1a, Albright's hereditary osteodystrophy, PHP Ia
Echinobase Genes
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| MIM:103580 - pseudohypoparathyroidism, type ia; php1a |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
pseudohypoparathyroidism (is_a)