Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:small_intestine
colon stomach |
| gptkbp:causedBy |
mutation in SMAD4 gene
mutation in BMPR1A gene |
| gptkbp:complication |
increased risk of colorectal cancer
increased risk of gastric cancer |
| gptkbp:diagnosedBy |
genetic testing
colonoscopy |
| gptkbp:firstDescribed |
1964
|
| https://www.w3.org/2000/01/rdf-schema#label |
juvenile polyposis syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D011626
|
| gptkbp:OMIM |
174900
|
| gptkbp:prevalence |
1 in 100,000 to 1 in 160,000
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:anemia
diarrhea abdominal pain rectal bleeding multiple polyps in gastrointestinal tract |
| gptkbp:synonym |
gptkb:JPS
gptkb:juvenile_polyposis_coli |
| gptkbp:treatment |
colectomy
endoscopic surveillance polypectomy |
| gptkbp:bfsParent |
gptkb:10q23.3
gptkb:SMAD4 |
| gptkbp:bfsLayer |
6
|