pseudopseudohypoparathyroidism
GPTKB entity
Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:excludes |
parathyroid hormone resistance
|
| gptkbp:firstDescribed |
gptkb:Fuller_Albright
|
| gptkbp:hasFeature |
gptkb:Albright_hereditary_osteodystrophy_phenotype
|
| https://www.w3.org/2000/01/rdf-schema#label |
pseudopseudohypoparathyroidism
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GNAS_gene
|
| gptkbp:relatedTo |
pseudohypoparathyroidism
|
| gptkbp:symptom |
gptkb:brachydactyly
short stature round face |
| gptkbp:bfsParent |
gptkb:Pseudohypoparathyroidism_type_1B
gptkb:Albright_hereditary_osteodystrophy |
| gptkbp:bfsLayer |
6
|