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DOID:4183 - pseudopseudohypoparathyroidism
Disease Ontology Definition:A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
Synonyms: Normocalcemic pseudohypoparathyroidism, Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous], PPHP, Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism (disorder)
Xenbase Genes
:
gnas
| MONDO:0012912 - pseudopseudohypoparathyroidism |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
pseudohypoparathyroidism (is_a)