| Term Name: | immune dysregulation, neurodevelopmental defects, and colitis |
|---|---|
| Synonyms: | IDNDC |
| Definition: | A physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that has_material_basis_in homozygous or compound heterozygous mutation in the ITGAV gene on chromosome 2q32. |
| Ontology: | Human Disease [DOID:0070720] ( DOID:0070720 ) |