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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)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000639 | Nystagmus |
| HP:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0000938 | Osteopenia |
| HP:0000978 | Bruising susceptibility |
| HP:0000995 | Melanocytic nevus |
| HP:0001004 | Lymphedema |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
