pseudohypoparathyroidism type Ia
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
endocrine system
|
| gptkbp:alsoKnownAs |
PHP Ia
|
| gptkbp:associatedWith |
GHRH resistance
TSH resistance gonadotropin resistance |
| gptkbp:category |
gptkb:metabolic_disorder
gptkb:rare_disease |
| 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
|
| 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),_alpha_subunit
gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
pseudohypoparathyroidism type Ia
|