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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:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002650 | Scoliosis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002974 | Radioulnar synostosis |
| HP:0003115 | Abnormal EKG |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0006610 | Wide intermamillary distance |
