Human genes for pseudohypoparathyroidism type IB
Pseudohypoparathyroidism type IB [DOID:0080222]
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.
Synonyms: pseudohypoparathyroidism type IB, DOID:0080222, pseudohypoparathyroidism type IBs