Term Name:	pseudohypoparathyroidism type 1B
Synonyms:	PHP Ib
Definition:	A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.
Ontology:	Human Disease [DOID:0080222]   ( DOID:0080222 )