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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
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006889 | Intellectual disability, borderline |
| HP:0001561 | Polyhydramnios |
| HP:0011968 | Feeding difficulties |
| HP:0001642 | Pulmonic stenosis |
| HP:0001488 | Bilateral ptosis |
| HP:0004523 | Long eyebrows |
