Noonan syndrome 3

Summary
Synonym
  • NS3
Definition
A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.
Super Class
Noonan syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0060581
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
16653 Kras Kirsten rat sarcoma viral oncogene homolog
The Human Phenotype Ontology
Displaying entries 41 - 50 of 91 in total
HPO ID HPO Term
HP:0001631 Atrial septal defect
HP:0001639 Hypertrophic cardiomyopathy
HP:0001641 Abnormal pulmonary valve morphology
HP:0001643 Patent ductus arteriosus
HP:0001680 Coarctation of aorta
HP:0001743 Abnormality of the spleen
HP:0001892 Abnormal bleeding
HP:0001928 Abnormality of coagulation
HP:0002162 Low posterior hairline
HP:0002167 Abnormality of speech or vocalization
Displaying all 2 entries
Gene ID Gene Symbol Description
3845 KRAS KRAS proto-oncogene, GTPase
4893 NRAS NRAS proto-oncogene, GTPase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024