Pseudohypoparathyroidism Type 1A
Disease ID: disease_node_17541
Connections displayed (default: 10).
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| Dbxref | GARD:7486, MIM:103580, ORDO:79443 |
|---|---|
| Subclassof | DOID_4184 |
| Data Source | DOID |
| Synonyms | Albright hereditary osteodystrophy, Albright's hereditary osteodystrophy, PHP Ia |
| Disease Has Location | UBERON_0002398, UBERON_0002387 |
| Doid Label | pseudohypoparathyroidism type 1A |
| Doid Description | A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele. |
| Has Symptom | SYMP_0000568 |
| Disease Node Id | disease_node_17541 |
| Doid Id | DOID_0080053 |
| Label | Pseudohypoparathyroidism Type 1A |
- Outgoing r'ship
HAS_SYMPTOMto/from Short Stature(ID:disease_node_21459) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Pseudohypoparathyroidism(ID:disease_node_6380) (Disease)