Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
gastrointestinal tract mucous membranes |
| gptkbp:characterizedBy |
hamartomatous polyps
mucocutaneous pigmentation |
| gptkbp:diagnosedBy |
genetic testing
endoscopy |
| gptkbp:firstDescribed |
gptkb:Harold_Jeghers
gptkb:Jan_Peutz 1921 |
| https://www.w3.org/2000/01/rdf-schema#label |
Peutz-Jeghers syndrome
|
| gptkbp:ICD-10_code |
Q85.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D010437
|
| gptkbp:mutationAssociatedWith |
gptkb:STK11_gene
|
| gptkbp:namedAfter |
gptkb:Harold_Jeghers
gptkb:Jan_Peutz |
| gptkbp:OMIM |
175200
|
| gptkbp:prevalence |
1 in 25,000 to 300,000 live births
|
| gptkbp:riskFactor |
gptkb:cancer
pancreatic cancer gastrointestinal cancer |
| gptkbp:symptom |
abdominal pain
intestinal obstruction melanotic macules on lips |
| gptkbp:treatment |
cancer surveillance
polyp removal |
| gptkbp:bfsParent |
gptkb:19p13.3
gptkb:Pancreatic_cancer gptkb:small_bowel_cancer |
| gptkbp:bfsLayer |
6
|