Phenotypes associated with the disease Hirschsprung disease (ORPHA:388):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Enterocolitis (HP:0004387): An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Colon perforation (HP:0031369): A hole (perforation) in the wall of the colon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:388)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:388)
- Functional abnormality of the gastrointestinal tract (HP:0012719): Abnormal functionality of the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:388)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:388)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:388)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:388)
- Bilious emesis (HP:0034754): Vomiting whereby the vomit has the color of bile, yellowish-green. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:388)
- Delayed passage of meconium (HP:6000224): Failure to pass meconium (the first stool following birth) in the first 48 hours of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:388)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:388)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:388)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:388)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:388)