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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:0006725 | Pancreatic adenocarcinoma |
| HP:0002860 | Squamous cell carcinoma |
| HP:0012539 | Non-Hodgkin lymphoma |
| HP:0002671 | Basal cell carcinoma |
| HP:0009725 | Bladder neoplasm |
| HP:0003003 | Colon cancer |
| HP:0000138 | Ovarian cyst |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0012114 | Endometrial carcinoma |
| HP:0002858 | Meningioma |
