Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:RAS/MAPK_pathway
|
| gptkbp:associatedWith |
gptkb:MEK1
gptkb:MEK2 gptkb:PTPN11 gptkb:SHOC2 gptkb:HRAS gptkb:KRAS gptkb:NRAS gptkb:BRAF gptkb:RAF1 gptkb:SOS1 |
| gptkbp:causedBy |
mutations in genes of the RAS/MAPK pathway
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
early 2000s
|
| https://www.w3.org/2000/01/rdf-schema#label |
RASopathy
|
| gptkbp:includes |
gptkb:Neurofibromatosis_type_1
gptkb:Cardiofaciocutaneous_syndrome gptkb:Costello_syndrome gptkb:Noonan_syndrome |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
611431
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
distinct facial features
developmental delay skin abnormalities cardiac defects |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:cardiofaciocutaneous_syndrome
gptkb:Cardiofaciocutaneous_syndrome gptkb:Costello_syndrome gptkb:Noonan_syndrome |
| gptkbp:bfsLayer |
6
|