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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:0000978 | Bruising susceptibility |
| HP:0000995 | Melanocytic nevus |
| HP:0001004 | Lymphedema |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
| HP:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001382 | Joint hypermobility |
