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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:0000044 | Hypogonadotropic hypogonadism |
| HP:0000028 | Cryptorchidism |
| HP:0000078 | Abnormality of the genital system |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000218 | High palate |
| HP:0000316 | Hypertelorism |
| HP:0000325 | Triangular face |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000368 | Low-set, posteriorly rotated ears |
