DO_rare_slim has symptom disease has location pseudohypoparathyroidism type 1A 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. disease_ontology ORDO:79443 DOID:0080053 Albright hereditary osteodystrophy Albright's hereditary osteodystrophy GARD:7486 MIM:103580 PHP Ia pseudohypoparathyroidism short stature foot hand