Albright hereditary osteodystrophy phenotype
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
phenotype
|
| gptkbp:associatedWith |
gptkb:Albright_hereditary_osteodystrophy
|
| gptkbp:characterizedBy |
gptkb:brachydactyly
obesity short stature round face mental retardation subcutaneous ossifications |
| https://www.w3.org/2000/01/rdf-schema#label |
Albright hereditary osteodystrophy phenotype
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GNAS_gene
|
| gptkbp:OMIM |
103580
|
| gptkbp:relatedTo |
gptkb:pseudopseudohypoparathyroidism
pseudohypoparathyroidism |
| gptkbp:bfsParent |
gptkb:pseudopseudohypoparathyroidism
|
| gptkbp:bfsLayer |
7
|