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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
External Links
- Disease Ontology
- DOID:0060583
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000078 | Abnormality of the genital system |
| HP:0000476 | Cystic hygroma |
| HP:0000325 | Triangular face |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000348 | High forehead |
| HP:0000218 | High palate |
| HP:0000465 | Webbed neck |
| HP:0000508 | Ptosis |
| HP:0000520 | Proptosis |
| HP:0000635 | Blue irides |
