Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0001260 | Dysarthria |
| HP:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001382 | Joint hypermobility |
| HP:0001631 | Atrial septal defect |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001641 | Abnormal pulmonary valve morphology |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001680 | Coarctation of aorta |
| HP:0001743 | Abnormality of the spleen |
