FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pseudopseudohypoparathyroidism ID (Ontology) DOID:4183 (Human Disease)
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.
Also Known As "Normocalcemic pseudohypoparathyroidism" ; "PPHP"
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 Genes
 pseudopseudohypoparathyroidism       2
 for disease ribbon | pseudopseudohypoparathyroidism       2
 model of | pseudopseudohypoparathyroidism       2
Spanning Tree (Parents/Children)
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  metal metabolism disorder
   |__pseudohypoparathyroidism
       |__pseudopseudohypoparathyroidism  2 rec.
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Synonyms
  • "Normocalcemic pseudohypoparathyroidism" EXACT
    "PPHP" EXACT OMO:0003012
Secondary IDs
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GARD:7860
MESH:D011556
MIM:612463
NCI:C129722
SNOMEDCT_US_2023_03_01:190867002
UMLS_CUI:C0033835