# familial adenomatous polyposis

> autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer

**Wikidata**: [Q1369011](https://www.wikidata.org/wiki/Q1369011)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Familial_adenomatous_polyposis)  
**Source**: https://4ort.xyz/entity/familial-adenomatous-polyposis


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. NDF-RT
5. Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000134982/MONDO_0021055)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000134982/Orphanet_733)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)
10. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)