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gptkbp:instanceOf
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genetic disorder
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gptkbp:affects
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humans
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gptkbp:alsoKnownAs
|
gptkb:NS
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gptkbp:category
|
genetic disorder
syndrome
rare disease
autosomal dominant disorder
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gptkbp:diagnosedBy
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clinical evaluation
genetic testing
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gptkbp:firstDescribed
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gptkb:Jacqueline_Noonan
1963
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|
https://www.w3.org/2000/01/rdf-schema#label
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Noonan syndrome
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gptkbp:ICD-10_code
|
Q87.1
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gptkbp:inheritance
|
autosomal dominant
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gptkbp:MeSH_ID
|
D009639
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gptkbp:mutationAssociatedWith
|
gptkb:CBL
gptkb:LZTR1
gptkb:MAP2K1
gptkb:MRAS
gptkb:PTPN11
gptkb:RIT1
gptkb:SHOC2
gptkb:SOS2
gptkb:KRAS
gptkb:NRAS
gptkb:BRAF
gptkb:RAF1
gptkb:SOS1
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gptkbp:OMIM
|
163950
|
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gptkbp:prevalence
|
1 in 1,000 to 2,500 live births
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gptkbp:relatedTo
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gptkb:RASopathy
|
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gptkbp:symptom
|
gptkb:atrial_septal_defect
short stature
pectus excavatum
developmental delay
bleeding diathesis
cryptorchidism
hypertelorism
learning difficulties
low-set ears
ptosis
webbed neck
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gptkbp:treatment
|
special education
supportive care
cardiac surgery
growth hormone therapy
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gptkbp:bfsParent
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gptkb:KRAS
gptkb:chromosome_12p12.1_(KRAS)
gptkb:chromosome_1p13.2_(NRAS)
gptkb:BRAF_gene
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gptkbp:bfsLayer
|
5
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