Disease association ontology term - MONDO:0012041 - familial adenomatous polyposis 2
Term summary
- ID
- MONDO:0012041
- Name
- familial adenomatous polyposis 2
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas.