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Summary Literature (0)
DOID:0080222 - pseudohypoparathyroidism type 1B

Disease Ontology 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. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.

Synonyms: PHP Ib

Xenbase Genes : gnas, stx16


MIM:
MIM:603233 - PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): pseudohypoparathyroidism (is_a)