Term Name: | pseudopseudohypoparathyroidism |
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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. |
Ontology: | Human Disease [DOID:4183] ( DOID:4183 ) |