- Multiple exostoses (HP:0002762, a Human Phenotype Ontology term): Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: IEA. (OMIM:175450)
- Intestinal polyposis (HP:0200008, a Human Phenotype Ontology term): The presence of multiple polyps in the intestine. Evidence: IEA. (OMIM:175450)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:175450)
These phenotypes are associated with the disease polyposis, intestinal, with multiple exostoses (OMIM:175450, an entry in Online Mendelian Inheritance in Man).