Version: 8.0.0
Date: Tue Jan 28 2025
pseudopseudohypoparathyroidism
DOID:4183
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pseudopseudohypoparathyroidism

Definition
A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
Synonyms
  • Normocalcemic pseudohypoparathyroidism
  • PPHP
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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