Phenotypes associated with the disease inflammatory bowel disease 30 (OMIM:619079):
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: PCS. Frequency: 1/3. (PMID:29408806)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 1/3. (PMID:29408806)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: PCS. (PMID:29408806)
- Gastritis (HP:0005263): The presence of inflammation of the gastric mucous membrane. Evidence: PCS. (PMID:29408806)
- Ileitis (HP:0032564): Inflammation of the ileum. Evidence: PCS. (PMID:29408806)
- Pancolitis (HP:0033256): Inflammation of the entire colon. Evidence: PCS. (PMID:29408806)
- Bloody diarrhea (HP:0025085): Passage of many stools containing blood. Evidence: PCS. Frequency: 1/3. (PMID:29408806)
- Duodenitis (HP:0033117): Inflammation of the lining of the upper small intestine (duodenum). Evidence: PCS. (PMID:29408806)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: PCS. (PMID:29408806)
- Ileal stricture (HP:0020002): A pathological narrowing of the ileum that is caused by the development of a ring of scar tissue that constricts the ileal lumen. Evidence: PCS. Frequency: 1/3. (PMID:29408806)
- 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:29408806)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. Frequency: 3/3. (PMID:29408806)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: IEA. Frequency: 3/3. (PMID:29408806)