Pseudohypoparathyroidism Type 1C
Disease ID: disease_node_17542
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| Dbxref | GARD:10681, MIM:612462, ORDO:79444 |
|---|---|
| Subclassof | DOID_4184 |
| Data Source | DOID |
| Synonyms | PHP Ic |
| Doid Label | pseudohypoparathyroidism type 1C |
| Doid Description | A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. PHP Ic appears to differ from PHP Ia (DOID:0080053) only in that patients retain erythrocyte Gs activity. |
| Disease Node Id | disease_node_17542 |
| Doid Id | DOID_0051013 |
| Label | Pseudohypoparathyroidism Type 1C |
- Outgoing r'ship
SUBCLASS_OFto/from Pseudohypoparathyroidism(ID:disease_node_6380) (Disease)