pseudohypoparathyroidism type Ia
GPTKB entity
Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
endocrine system
|
gptkbp:alsoKnownAs |
PHP Ia
|
gptkbp:associatedWith |
GHRH resistance
TSH resistance gonadotropin resistance |
gptkbp:category |
rare disease
metabolic disorder |
gptkbp:characterizedBy |
gptkb:Albright_hereditary_osteodystrophy
gptkb:brachydactyly short stature round face hyperphosphatemia hypocalcemia resistance to parathyroid hormone subcutaneous ossifications |
gptkbp:firstDescribed |
gptkb:Fuller_Albright
|
https://www.w3.org/2000/01/rdf-schema#label |
pseudohypoparathyroidism type Ia
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:mutationAssociatedWith |
gptkb:GNAS_gene
|
gptkbp:OMIM |
103580
|
gptkbp:treatment |
active vitamin D analogs
calcium supplementation |
gptkbp:bfsParent |
gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha
|
gptkbp:bfsLayer |
7
|