pseudohypoparathyroidism type 1B
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
parathyroid hormone signaling
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:excludes |
Albright hereditary osteodystrophy features
|
| gptkbp:firstDescribed |
1980s
|
| https://www.w3.org/2000/01/rdf-schema#label |
pseudohypoparathyroidism type 1B
|
| gptkbp:ICD-10_code |
E20.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GNAS_gene
|
| gptkbp:OMIM |
603233
|
| gptkbp:symptom |
hyperphosphatemia
hypocalcemia elevated parathyroid hormone |
| gptkbp:treatment |
active vitamin D analogs
calcium supplements |
| gptkbp:bfsParent |
gptkb:SLC9A3R1
gptkb:pseudohypoparathyroidism_type_1A |
| gptkbp:bfsLayer |
7
|