Phenotypes associated with the disease polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (OMIM:175510):
- Intussusception (HP:0002576): An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. Evidence: TAS. (OMIM:175510)
- Intestinal polyposis (HP:0200008): The presence of multiple polyps in the intestine. Evidence: TAS. (OMIM:175510)
- Gastrointestinal stroma tumor (HP:0100723). Evidence: PCS. (PMID:25975287)
- Autosomal dominant inheritance (HP:0000006): 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: PCS. (PMID:25975287)