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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000286 | Epicanthus |
| HP:0001003 | Multiple lentigines |
| HP:0000470 | Short neck |
| HP:0000545 | Myopia |
| HP:0000337 | Broad forehead |
| HP:0000957 | Cafe-au-lait spot |
| HP:0000431 | Wide nasal bridge |
| HP:0000006 | Autosomal dominant inheritance |
