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.
Exact Synonyms
Albright hereditary osteodystrophy
Albright's hereditary osteodystrophy
PHP Ia
class Information
has_obo_namespace
disease_ontology
in_subset