Noonan syndrome 5

Summary
Synonym
  • NS5
Definition
A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
Super Class
Noonan syndrome autosomal dominant disease
Disease Ontology
DOID:0060583
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase
The Human Phenotype Ontology
Displaying entries 41 - 50 of 70 in total
HPO ID HPO Term
HP:0001892 Abnormal bleeding
HP:0001928 Abnormality of coagulation
HP:0002162 Low posterior hairline
HP:0002167 Abnormality of speech or vocalization
HP:0002208 Coarse hair
HP:0002240 Hepatomegaly
HP:0002650 Scoliosis
HP:0002750 Delayed skeletal maturation
HP:0002974 Radioulnar synostosis
HP:0003115 Abnormal EKG
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: December 9, 2024