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DO Term : pseudopseudohypoparathyroidism [DOID:4183] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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,
  • GARD:7860,
  • SNOMEDCT_US_2023_03_01:190867002,
  • 612463,
  • NCI:C129722,
  • PPHP,
  • UMLS_CUI:C0033835,
  • MESH:D011556,
  • OMIM:612463
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents