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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
familial adenomatous polyposis 2
Summary
- Synonym
-
- MUTYH-associated polyposis
- MUTYH-related attenuated FAP
- MUTYH-related attenuated familial adenomatous polyposis
- MUTYH-related attenuated familial polyposis coli
- Definition
- A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
- Super Class
- autosomal recessive disease familial adenomatous polyposis
External Links
- Disease Ontology
- DOID:0080410
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| Q8WUJ3 | Cell migration-inducing and hyaluronan-binding protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium |
| HP:0100896 | Rectal polyposis |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0200063 | Colorectal polyposis |
| HP:0100245 | Desmoid tumors |
| HP:0003003 | Colon cancer |
| HP:0000007 | Autosomal recessive inheritance |
