{
    "disease_id": "DOID:0080297",
    "recommended_name": {
        "id": "DOID:0080297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080297",
        "name": "Coffin-Siris syndrome 6",
        "description": "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0033492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033492",
            "name": "Coffin-Siris syndrome 6",
            "description": "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene."
        },
        {
            "id": "MONDO:0033492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033492",
            "name": "ARID2-related BAFopathy",
            "description": ""
        },
        {
            "id": "MONDO:0033492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033492",
            "name": "Coffin-Siris syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0033492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033492",
            "name": "CSS6",
            "description": ""
        },
        {
            "id": "MIM:617808",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617808",
            "name": "Coffin-Siris syndrome 6",
            "description": "Coffin-Siris syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080297"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080297",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080297",
            "categories": []
        },
        {
            "id": "MONDO:0033492",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033492",
            "categories": []
        },
        {
            "id": "MIM:617808",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617808",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NXG0-1",
            "uniprot_ac": "F6NXG0",
            "uniprot_id": "F6NXG0_DANRE",
            "refseq_ac": "XP_005164514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AT-rich interactive domain-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arid2",
                    "type": "recommended"
                },
                {
                    "name": "arid2",
                    "type": "synonym"
                },
                {
                    "name": "fi45a01",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-132p20.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi45a01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152901",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NXG0-1",
            "evidence": [
                {
                    "id": "0080297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q7E2-1",
            "uniprot_ac": "E9Q7E2",
            "uniprot_id": "ARID2_MOUSE",
            "refseq_ac": "NP_780460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AT-rich interactive domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ARID domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "AT rich interactive domain 2 (ARID, RFX-like)",
                    "type": "synonym"
                },
                {
                    "name": "AT rich interactive domain 2 (Arid-rfx like)",
                    "type": "synonym"
                },
                {
                    "name": "AT-rich interactive domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BAF200",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 200",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein with activation potential",
                    "type": "synonym"
                },
                {
                    "name": "Zipzap/p200",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein with activation potential",
                    "type": "synonym"
                },
                {
                    "name": "zipzap",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arid2",
                    "type": "recommended"
                },
                {
                    "name": "1700124K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "4432409D24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arid2",
                    "type": "synonym"
                },
                {
                    "name": "BAF200",
                    "type": "synonym"
                },
                {
                    "name": "Baf200",
                    "type": "synonym"
                },
                {
                    "name": "zipzap/p200",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q7E2-1",
            "evidence": [
                {
                    "id": "0080297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68CP9-1",
            "uniprot_ac": "Q68CP9",
            "uniprot_id": "ARID2_HUMAN",
            "refseq_ac": "NP_001334768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AT-rich interactive domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ARID domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "AT rich interactive domain 2 (ARID, RFX-like)",
                    "type": "synonym"
                },
                {
                    "name": "AT-rich interactive domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "AT-rich interactive domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BAF200",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 200",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein with activation potential",
                    "type": "synonym"
                },
                {
                    "name": "Zipzap/p200",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein with activation potential",
                    "type": "synonym"
                },
                {
                    "name": "zipzap/p200",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARID2",
                    "type": "recommended"
                },
                {
                    "name": "ARID2",
                    "type": "synonym"
                },
                {
                    "name": "BAF200",
                    "type": "synonym"
                },
                {
                    "name": "CSS6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1557",
                    "type": "synonym"
                },
                {
                    "name": "SMARCF3",
                    "type": "synonym"
                },
                {
                    "name": "ZIPZAP",
                    "type": "synonym"
                },
                {
                    "name": "p200",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68CP9-1",
            "evidence": [
                {
                    "id": "617808",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617808"
                },
                {
                    "id": "0080297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJU0-1",
            "uniprot_ac": "D3ZJU0",
            "uniprot_id": "D3ZJU0_RAT",
            "refseq_ac": "NP_001419436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AT-rich interactive domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "AT rich interactive domain 2 (Arid-rfx like)",
                    "type": "synonym"
                },
                {
                    "name": "AT-rich interactive domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 200",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein with activation potential",
                    "type": "synonym"
                },
                {
                    "name": "Zipzap/p200",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arid2",
                    "type": "recommended"
                },
                {
                    "name": "Arid2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJU0-1",
            "evidence": [
                {
                    "id": "0080297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080297"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6M0-1",
            "uniprot_ac": "A1Z6M0",
            "uniprot_id": "A1Z6M0_DROME",
            "refseq_ac": "NP_610216",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bap170-PA",
                    "type": "synonym"
                },
                {
                    "name": "Brahma associated protein 170kD",
                    "type": "synonym"
                },
                {
                    "name": "CG3274-PA",
                    "type": "synonym"
                },
                {
                    "name": "brahma associated protein 170kD",
                    "type": "synonym"
                },
                {
                    "name": "half-life",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bap170",
                    "type": "recommended"
                },
                {
                    "name": "BAP 170",
                    "type": "synonym"
                },
                {
                    "name": "BAP170",
                    "type": "synonym"
                },
                {
                    "name": "Bap170",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH12174",
                    "type": "synonym"
                },
                {
                    "name": "CG3274",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3274",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3274",
                    "type": "synonym"
                },
                {
                    "name": "bap170",
                    "type": "synonym"
                },
                {
                    "name": "hfl",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6M0-1",
            "evidence": [
                {
                    "id": "0080297",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080297"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080297"
}