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familial adenomatous polyposis 3
Summary
- Definition
- A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.
- Super Class
- autosomal recessive disease familial adenomatous polyposis
External Links
- Disease Ontology
- DOID:0080411
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100743 | Neoplasm of the rectum |
| HP:0003002 | Breast carcinoma |
| HP:0008069 | Neoplasm of the skin |
| HP:0003581 | Adult onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0012125 | Prostate cancer |
