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Repository for lectin-assisted multimodality data
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MIRAGE
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:0000957 | Cafe-au-lait spot |
| HP:0011968 | Feeding difficulties |
| HP:0008070 | Sparse hair |
| HP:0001488 | Bilateral ptosis |
| HP:0000969 | Edema |
| HP:0000337 | Broad forehead |
| HP:0001290 | Generalized hypotonia |
| HP:0004523 | Long eyebrows |
| HP:0001642 | Pulmonic stenosis |
| HP:0000545 | Myopia |
