Term Name: | pseudohypoparathyroidism type IB |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080222] ( DOID:0080222 ) |