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Metadata
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
Xrefs	GARD:10680 MESH:C548075 OMIM:603233 ORDO:94089
Subsets	DO_rare_slim
Parent Relationships	is_a pseudohypoparathyroidism