Search Ontology:
Human Disease

pseudopseudohypoparathyroidism

Term ID
DOID:4183
Synonyms
  • Normocalcemic pseudohypoparathyroidism
  • PPHP
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. https://pubmed.ncbi.nlm.nih.gov/17161328/
References
Ontology
Human Disease   ( DOID:4183 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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