Peutz-Jeghers Syndrome
Disease ID: disease_node_6032
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| Dbxref | GARD:7378, ICD10CM:Q85.89, MESH:D010580, MIM:175200, NCI:C3324, NCI:C4733, NCI:C7755, ORDO:2869, SNOMEDCT_US_2023_03_01:157029009, SNOMEDCT_US_2023_03_01:277161008, SNOMEDCT_US_2023_03_01:53633000, UMLS_CUI:C0031269, UMLS_CUI:C0265323, UMLS_CUI:C0456487 |
|---|---|
| Subclassof | DOID_5295 |
| Data Source | DOID, MESH |
| Synonyms | 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 |
| Mesh Id | D010580 |
| Mesh Label | Peutz-Jeghers Syndrome |
| Mesh Subclassof | D009386, D044483, D007911 |
| Doid Label | Peutz-Jeghers syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_6032 |
| Doid Id | DOID_3852 |
| Label | Peutz-Jeghers Syndrome |
| Doid Alternate Ids | DOID_4133, DOID_4134, DOID_6252, DOID_6253 |
- Outgoing r'ship
SUBCLASS_OFto/from Intestinal Diseases(ID:disease_node_4331) (Disease)