Pseudopseudohypoparathyroidism
Disease ID: disease_node_6388
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| Dbxref | GARD:7860, MESH:D011556, MIM:612463, NCI:C129722, SNOMEDCT_US_2023_03_01:190867002, UMLS_CUI:C0033835 |
|---|---|
| Subclassof | DOID_4184 |
| Data Source | DOID, MESH |
| Synonyms | Normocalcemic pseudohypoparathyroidism, PPHP |
| Mesh Id | D011556 |
| Mesh Label | Pseudopseudohypoparathyroidism |
| Mesh Subclassof | D011547 |
| Doid Label | pseudopseudohypoparathyroidism |
| Doid Description | 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. |
| Disease Node Id | disease_node_6388 |
| Doid Id | DOID_4183 |
| Label | Pseudopseudohypoparathyroidism |
- Outgoing r'ship
SUBCLASS_OFto/from Pseudohypoparathyroidism(ID:disease_node_6380) (Disease)