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MIRAGE
Noonan syndrome 5
Summary
- Synonym
-
- NS5
- Definition
- A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060583
- Mondo Disease Ontology
- MeSH
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04049 | RAF proto-oncogene serine/threonine-protein kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000347 | Micrognathia |
| HP:0000486 | Strabismus |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000316 | Hypertelorism |
| HP:0000028 | Cryptorchidism |
| HP:0000391 | Thickened helices |
