immune dysregulation, neurodevelopmental defects, and colitis Disease Ontology Browser

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Disease Ontology Browser

immune dysregulation, neurodevelopmental defects, and colitis (DOID:0070720)
Alliance: disease page
Synonyms: IDNDC
Alt IDs: OMIM:621375
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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