Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:associatedWith |
gptkb:NRAS
|
| gptkbp:causedBy |
mutation in NRAS gene
|
| gptkbp:hasICD10 |
Q87.1
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome 5
|