Statements (15)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:associatedWith |
gptkb:NRAS
|
gptkbp:causedBy |
mutation in NRAS gene
|
gptkbp:hasICD10 |
Q87.1
|
https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome 5
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:OMIM |
615355
|
gptkbp:onset |
congenital
|
gptkbp:partOf |
Noonan syndrome spectrum
|
gptkbp:symptom |
gptkb:atrial_septal_defect
short stature developmental delay distinctive facial features |
gptkbp:bfsParent |
gptkb:v-raf_murine_sarcoma_151_oncogene_homolog
|
gptkbp:bfsLayer |
7
|