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congenital short bowel syndrome
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Uniprot Description A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:2301
SCTID:715201005
MONDO:0014097
High level summary of knowledge for a disease, including descriptions and datasource references.