Search Ontology:
Human Disease

pseudohypoparathyroidism type 1B

Term ID
DOID:0080222
Synonyms
  • PHP 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. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. (4)
References
Ontology
Human Disease   ( DOID:0080222 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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