Details of Disease

General Information of Disease (ID: DISLUA6O)

• Disease Name: Congenital short bowel syndrome, autosomal recessive
• Synonyms: CSBS; congenital short bowel syndrome; congenital short bowel syndrome due to CLMP variation; congenital short bowel syndrome 1
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS2A1HB: Congenital short bowel syndrome
  DISLUA6O: Congenital short bowel syndrome, autosomal recessive

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLMP	OTU7C3GQ	Strong	Autosomal recessive	[1]

References

• [1] CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology. 2012 Mar;142(3):453-462.e3. doi: 10.1053/j.gastro.2011.11.038. Epub 2011 Dec 7.