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Noonan syndrome 6
Summary
- Synonym
-
- NS6
- Definition
- A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060584
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01111 | GTPase NRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001643 | Patent ductus arteriosus |
| HP:0001260 | Dysarthria |
| HP:0001249 | Intellectual disability |
| HP:0001680 | Coarctation of aorta |
| HP:0001641 | Abnormal pulmonary valve morphology |
| HP:0001382 | Joint hypermobility |
| HP:0001743 | Abnormality of the spleen |
| HP:0001324 | Muscle weakness |
| HP:0001156 | Brachydactyly |
| HP:0001639 | Hypertrophic cardiomyopathy |
