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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:0000006 | Autosomal dominant inheritance |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000286 | Epicanthus |
| HP:0000508 | Ptosis |
| HP:0000520 | Proptosis |
| HP:0000635 | Blue irides |
| HP:0000639 | Nystagmus |
| HP:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0000938 | Osteopenia |
