# juvenile polyposis syndrome

> autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum

**Wikidata**: [Q609165](https://www.wikidata.org/wiki/Q609165)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Juvenile_polyposis_syndrome)  
**Source**: https://4ort.xyz/entity/juvenile-polyposis-syndrome


## References

1. Disease Ontology
2. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
3. Juvenile polyposis syndrome
4. Monarch Disease Ontology release 2018-06-29
5. Freebase Data Dumps. 2013
6. UniProt
7. Mutations in the SMAD4/DPC4 gene in juvenile polyposis
8. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/10029)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10029)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107779/MONDO_0017380)
12. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
13. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/9856)
14. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9856)
15. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141646/MONDO_0017380)
16. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
17. UMLS 2023