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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:0000639 | Nystagmus |
| HP:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0000938 | Osteopenia |
| HP:0000978 | Bruising susceptibility |
| HP:0000995 | Melanocytic nevus |
| HP:0001004 | Lymphedema |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
