| Metadata | |
|---|---|
| ID | DOID:0080222 |
| Name | pseudohypoparathyroidism type 1B |
| Definition | A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. https://pubmed.ncbi.nlm.nih.gov/14561710/, https://pubmed.ncbi.nlm.nih.gov/15592469/, https://www.ncbi.nlm.nih.gov/pubmed/6301273, https://www.ncbi.nlm.nih.gov/pubmed/6325502 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
PHP Ib [EXACT] |
| Parent Relationships |