Term Name: | pseudohypoparathyroidism type 1A |
---|---|
Synonyms: | Albright hereditary osteodystrophy, Albright's hereditary osteodystrophy, PHP Ia |
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. |
Ontology: | Human Disease [DOID:0080053] ( DOID:0080053 ) |