Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
Noonan syndrome spectrum
|
| gptkbp:causedBy |
mutation in the RIT1 gene
|
| gptkbp:firstDescribed |
2013
|
| https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome 8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
615355
|
| gptkbp:symptom |
gptkb:atrial_septal_defect
short stature developmental delay distinctive facial features |
| gptkbp:bfsParent |
gptkb:RIT1
|
| gptkbp:bfsLayer |
6
|