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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
Noonan syndrome 7
Summary
- Synonym
-
- NS7
- Definition
- A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060585
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000391 | Thickened helices |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000465 | Webbed neck |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000476 | Cystic hygroma |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000508 | Ptosis |
| HP:0000520 | Proptosis |
| HP:0000635 | Blue irides |
