Source:http://linkedlifedata.com/resource/lhgdn/association:29156
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Some PTPN11 mutations (e.g., Y279C) are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or cafe au lait spots (LEOPARD syndrome).
|
| lhgdn:mesh_code |
D019080
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |