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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004442 | Sagittal craniosynostosis |
| HP:0001634 | Mitral valve prolapse |
| HP:0003196 | Short nose |
| HP:0005281 | Hypoplastic nasal bridge |
| HP:0001263 | Global developmental delay |
| HP:0001655 | Patent foramen ovale |
| HP:0011321 | Left unilambdoid synostosis |
| HP:0001629 | Ventricular septal defect |
| HP:0002007 | Frontal bossing |
| HP:0000914 | Shield chest |
