Status
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Details for phenotype: Familial juvenile polyposis

EndoNet ID: ENP00400

Name

Familial juvenile polyposis

General information

This phenotype is pathologic

Links to other resources

GO
OMIM 174900
MeSH term C23.300.825
Disease database 7067

Phenotype triggers

  • no activity (knock out experiment or RNAi) of BMP receptor type 1A
    in adrenal_cortex
    • Familial juvenile polyposis, an inherited hamartomatous polyposis syndrome with a high risk for colon cancer, has been associated with mutations in SMAD4 or BMPR1A. [1]
Reference