{
    "disease_id": "DOID:0070720",
    "recommended_name": {
        "id": "DOID:0070720",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070720",
        "name": "immune dysregulation, neurodevelopmental defects, and colitis",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0070720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070720",
            "name": "IDNDC",
            "description": ""
        },
        {
            "id": "MONDO:0980702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980702",
            "name": "immune dysregulation, neurodevelopmental defects, and colitis",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070720"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070720",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070720",
            "categories": []
        },
        {
            "id": "MONDO:0980702",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980702",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P06756-1",
            "uniprot_ac": "P06756",
            "uniprot_id": "ITAV_HUMAN",
            "refseq_ac": "NP_001138471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-V",
                    "type": "recommended"
                },
                {
                    "name": "Vitronectin receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Vitronectin receptor",
                    "type": "synonym"
                },
                {
                    "name": "antigen identified by monoclonal antibody L230",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-V isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-V",
                    "type": "synonym"
                },
                {
                    "name": "integrin alphaVbeta3",
                    "type": "synonym"
                },
                {
                    "name": "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)",
                    "type": "synonym"
                },
                {
                    "name": "vitronectin receptor subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITGAV",
                    "type": "recommended"
                },
                {
                    "name": "CD51",
                    "type": "synonym"
                },
                {
                    "name": "IDNDC",
                    "type": "synonym"
                },
                {
                    "name": "ITGAV",
                    "type": "synonym"
                },
                {
                    "name": "MSK8",
                    "type": "synonym"
                },
                {
                    "name": "VNRA",
                    "type": "synonym"
                },
                {
                    "name": "VTNR",
                    "type": "synonym"
                }
            ],
            "record_id": "P06756-1",
            "evidence": [
                {
                    "id": "621375",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621375"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070720"
}