Metadata | |
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ID | DOID:0080222 |
Name | pseudohypoparathyroidism type 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. https://www.ncbi.nlm.nih.gov/pubmed/6301273, https://www.ncbi.nlm.nih.gov/pubmed/6325502 |
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DO_rare_slim |
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