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 )

Relationships
is a type of: pseudohypoparathyroidism