immune dysregulation, neurodevelopmental defects, and colitis

Term ID

DOID:0070720

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. https://pubmed.ncbi.nlm.nih.gov/39526957/

References

• MIM:621375

Ontology

Human Disease   ( DOID:0070720 )