loading...| Preferred Name |
Peutz-Jeghers syndrome |
| Synonyms |
Peutz-Jeghers polyp of small Intestine |
| 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]. |
| database_cross_reference |
OMIM:175200 NCI:C4733 ORDO:2869 SNOMEDCT_US_2022_09_01:53633000 UMLS_CUI:C0456487 NCI:C3324 SNOMEDCT_US_2022_09_01:157029009 NCI:C7755 SNOMEDCT_US_2022_09_01:277161008 ICD10CM:Q85.89 UMLS_CUI:C0265323 MESH:D010580 UMLS_CUI:C0031269 GARD:7378 |
| 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. |
| has exact synonym |
Peutz-Jeghers polyp of small Intestine peutz-jeghers small bowel hamartoma gastric Peutz-Jeghers polyp Peutz Jeghers polyp Colonic hamartomatous polyp Peutz Jeghers colon polyp |
| has_alternative_id |
DOID:4134 DOID:6252 DOID:4133 DOID:6253 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:3852 |
| in_subset | |
| label |
Peutz-Jeghers syndrome |
| notation |
DOID:3852 |
| prefLabel |
Peutz-Jeghers syndrome |
| subClassOf |