Phenotypes associated with the disease Colonic atresia (ORPHA:1198):
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1198)
- Gastroschisis (HP:0001543): A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1198)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1198)
- Abdominal situs inversus (HP:0003363): A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1198)
- Peptic ulcer (HP:0004398): The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1198)
- Colonic atresia (HP:0010448): A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1198)
- Abnormal mesentery morphology (HP:0100016): Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1198)
- Duodenal stenosis (HP:0100867): The narrowing or partial blockage of a portion of the duodenum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1198)