Albright hereditary osteodystrophy
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
endocrine system
bone development |
| gptkbp:alsoKnownAs |
gptkb:AHO
|
| gptkbp:associatedWith |
gptkb:pseudopseudohypoparathyroidism
pseudohypoparathyroidism |
| gptkbp:characterizedBy |
gptkb:brachydactyly
obesity short stature round face subcutaneous ossifications |
| gptkbp:firstDescribed |
1942
|
| https://www.w3.org/2000/01/rdf-schema#label |
Albright hereditary osteodystrophy
|
| gptkbp:ICD-10_code |
E23.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GNAS_gene
|
| gptkbp:namedAfter |
gptkb:Fuller_Albright
|
| gptkbp:OMIM |
103580
|
| gptkbp:symptom |
dental anomalies
mental retardation calcification of basal ganglia |
| gptkbp:bfsParent |
gptkb:G_protein-coupled_receptor
|
| gptkbp:bfsLayer |
5
|