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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:0011381 | Aplasia of the semicircular canal |
| HP:0011675 | Arrhythmia |
| HP:0011800 | Midface retrusion |
| HP:0011869 | Abnormal platelet function |
| HP:0012209 | Juvenile myelomonocytic leukemia |
| HP:0012569 | Delayed menarche |
| HP:0012758 | Neurodevelopmental delay |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100625 | Enlarged thorax |
| HP:0100763 | Abnormality of the lymphatic system |
