FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pseudohypoparathyroidism type 1A ID (Ontology) DOID:0080053 (Human Disease)
Definition A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.
Also Known As "Albright hereditary osteodystrophy" ; "Albright's hereditary osteodystrophy" ; "PHP Ia"
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 Genes
 pseudohypoparathyroidism type 1A       2
 for disease ribbon | pseudohypoparathyroidism type 1A       2
 model of | pseudohypoparathyroidism type 1A       2
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  metal metabolism disorder
   |__pseudohypoparathyroidism
       |__pseudohypoparathyroidism type 1A  2 rec.
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Synonyms
  • "Albright hereditary osteodystrophy" EXACT
    "Albright's hereditary osteodystrophy" EXACT
    "PHP Ia" EXACT OMO:0003012
Secondary IDs
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GARD:7486
MIM:103580
ORDO:79443