loading...| Preferred Name | Peutz-Jeghers syndrome | |
| Synonyms |
Peutz Jeghers polyp peutz-jeghers small bowel hamartoma gastric Peutz-Jeghers polyp Colonic hamartomatous polyp Peutz-Jeghers polyp of small Intestine Peutz Jeghers colon polyp |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3852 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Peutz Jeghers polyp peutz-jeghers small bowel hamartoma gastric Peutz-Jeghers polyp Colonic hamartomatous polyp Peutz-Jeghers polyp of small Intestine Peutz Jeghers colon polyp |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:157029009 SNOMEDCT_US_2023_03_01:53633000 UMLS_CUI:C0031269 UMLS_CUI:C0265323 ICD10CM:Q85.89 UMLS_CUI:C0456487 SNOMEDCT_US_2023_03_01:277161008 MESH:D010580 GARD:7378 MIM:175200 NCI:C3324 NCI:C4733 NCI:C7755 ORDO:2869 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
Peutz Jeghers polyp peutz-jeghers small bowel hamartoma gastric Peutz-Jeghers polyp Colonic hamartomatous polyp Peutz-Jeghers polyp of small Intestine Peutz Jeghers colon polyp |
|
| has_alternative_id |
DOID:4133 DOID:4134 DOID:6252 DOID:6253 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3852 |
|
| in_subset | ||
| label |
Peutz-Jeghers syndrome |
|
| notation |
DOID:3852 |
|
| note |
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]. |
|
| preferred label |
Peutz-Jeghers syndrome |
|
| prefLabel |
Peutz-Jeghers syndrome |
|
| subClassOf |