pseudohypoparathyroidism type IB (DOID:0080222)
Alliance: disease page
Alt IDs: OMIM:603233, MESH:C548075, ORDO:94089
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.