Noonan syndrome 5

GPTKB entity

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