| Metadata | |
|---|---|
| ID | DOID:3852 |
| Name | Peutz-Jeghers syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/10499464/, https://pubmed.ncbi.nlm.nih.gov/10874301/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:157029009 SNOMEDCT_US_2023_03_01:277161008 SNOMEDCT_US_2023_03_01:53633000 |
| Alternateids |
DOID:4133 DOID:4134 DOID:6252 DOID:6253 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Colonic hamartomatous polyp [EXACT] gastric Peutz-Jeghers polyp [EXACT] Peutz Jeghers colon polyp [EXACT] Peutz Jeghers polyp [EXACT] Peutz-Jeghers polyp of small Intestine [EXACT] peutz-jeghers small bowel hamartoma [EXACT] |
| Parent Relationships |
is_a intestinal disease |