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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
- OMIM
- MGI genotype (from TogoID)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001892 | Abnormal bleeding |
| HP:0001928 | Abnormality of coagulation |
| HP:0002162 | Low posterior hairline |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002650 | Scoliosis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002974 | Radioulnar synostosis |
| HP:0003115 | Abnormal EKG |
