Phenotypes associated with the disease congenital short bowel syndrome, autosomal recessive (OMIM:615237, an entry in Online Mendelian Inheritance in Man):
- Decreased intestinal transit time (HP:0030897, a Human Phenotype Ontology term): A reduction in the length of time required for food to pass through the intestines. Evidence: TAS. (OMIM:615237)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:33384711)
- Projectile vomiting (HP:0002587, a Human Phenotype Ontology term): Vomiting that ejects the gastric contents with great force. Evidence: PCS. Frequency: 1/2. (PMID:33384711)
- Vomiting (HP:0002013, a Human Phenotype Ontology term): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 1/1. (PMID:31061750)
- Steatorrhea (HP:0002570, a Human Phenotype Ontology term): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. (OMIM:615237)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:33384711)
- Abdominal distention (HP:0003270, a Human Phenotype Ontology term): Distention of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:31061750)
- Abnormal peristalsis (HP:0030914, a Human Phenotype Ontology term): An anomaly of the wave-like muscle contractions of the digestive tract. Evidence: TAS. (OMIM:615237)
- Congenital shortened small intestine (HP:0030889, a Human Phenotype Ontology term): Substantially shortened length of the small intestine as a result of a developmental defect. Evidence: PCS. Frequency: 5/5. (PMID:33384711;PMID:35111702;PMID:31061750)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 3/3. (PMID:33384711;PMID:31061750)
- Intestinal atresia (HP:0011100, a Human Phenotype Ontology term): An abnormal closure, or atresia of the tubular structure of the intestine. Evidence: PCS. Frequency: 1/1. (PMID:31061750)
- Dehydration (HP:0001944, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:31061750)
- Autosomal recessive inheritance (HP:0000007, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:22155368)
- Intolerance to protein (HP:0001984, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:31061750)
- Intestinal malrotation (HP:0002566, a Human Phenotype Ontology term): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 5/5. (PMID:33384711;PMID:35111702;PMID:31061750)
- Metabolic acidosis (HP:0001942, a Human Phenotype Ontology term): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 3/3. (PMID:33384711;PMID:31061750)
- Chronic diarrhea (HP:0002028, a Human Phenotype Ontology term): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 3/3. (PMID:35111702;PMID:31061750)