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Repository for lectin-assisted multimodality data
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MIRAGE
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
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01116 | GTPase KRas |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P32883 | GTPase KRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000635 | Blue irides |
| HP:0001156 | Brachydactyly |
| HP:0000978 | Bruising susceptibility |
| HP:0000639 | Nystagmus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0001004 | Lymphedema |
| HP:0000520 | Proptosis |
| HP:0000768 | Pectus carinatum |
| HP:0001252 | Hypotonia |
| HP:0001382 | Joint hypermobility |
