WormBase Tree Display for DO_term: DOID:3852
expand all nodes | collapse all nodes | view schema
| DOID:3852 | Name | Peutz-Jeghers syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Alternate_id | DOID:4133 | ||||
| DOID:4134 | |||||
| DOID:6252 | |||||
| DOID:6253 | |||||
| Definition | An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Colonic hamartomatous polyp | |||
| Peutz Jeghers colon polyp | |||||
| Peutz Jeghers polyp | |||||
| Peutz-Jeghers polyp of small Intestine | |||||
| gastric Peutz-Jeghers polyp | |||||
| peutz-jeghers small bowel hamartoma | |||||
| Parent | Is_a | DOID:5295 | |||
| DB_info | Database | OMIM | disease | 175200 | |
| Disease_model_annotation | WBDOannot00000892 | ||||
| WBDOannot00000893 | |||||
| Attribute_of | Gene_by_biology | WBGene00003919 | |||
| Gene_by_orthology | WBGene00003919 | ||||
| Disease_model_variation | WBVar00088023 | ||||
| WBVar00088027 |
