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 )

Relationships
is a type of: autosomal recessive disease physical disorder