FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term pseudohypoparathyroidism type 1B ID (Ontology) DOID:0080222 (Human Disease)
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.
Also Known As "PHP Ib"
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 pseudohypoparathyroidism type 1B       3
 for disease ribbon | pseudohypoparathyroidism type 1B       3
 model of | pseudohypoparathyroidism type 1B       3
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  metal metabolism disorder
   |__pseudohypoparathyroidism
       |__pseudohypoparathyroidism type 1B  3 rec.
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Synonyms
  • "PHP Ib" EXACT OMO:0003012
Secondary IDs
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GARD:10680
MIM:603233
ORDO:94089