| Metadata | |
|---|---|
| ID | DOID:4183 |
| Name | pseudopseudohypoparathyroidism |
| 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/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:190867002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Normocalcemic pseudohypoparathyroidism [EXACT] PPHP [EXACT] |
| Parent Relationships |