Disease association ontology term - MONDO:0030669 - gastrointestinal defects and immunodeficiency syndrome 2
Term summary
- ID
- MONDO:0030669
- Name
- gastrointestinal defects and immunodeficiency syndrome 2
- Ontology or CV name
- Disease association
- Definition
- A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.
