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Noonan syndrome 1
Summary
- Synonym
-
- NS1
- Definition
- A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
- Super Class
- Noonan syndrome autosomal dominant disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06124 | Tyrosine-protein phosphatase non-receptor type 11 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35235 | Tyrosine-protein phosphatase non-receptor type 11 |
- 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 |
