| Metadata | |
|---|---|
| ID | DOID:0070720 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070720 Copy |
| Name | immune dysregulation, neurodevelopmental defects, and colitis |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621375 |
| Subsets |
DO_rare_slim |
| Synonyms |
IDNDC [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
existence starts during some Antenatal onset has material basis in some autosomal recessive inheritance |