{
    "disease_id": "DOID:0110113",
    "recommended_name": {
        "id": "DOID:0110113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110113",
        "name": "atrial heart septal defect 8",
        "description": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110113",
            "name": "ASD8",
            "description": ""
        },
        {
            "id": "DOID:0110113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110113",
            "name": "atrial septal defect 8",
            "description": ""
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "atrial septal defect 8",
            "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene."
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "ASD8",
            "description": ""
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "CITED2 atrial heart septal defect",
            "description": ""
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "atrial heart septal defect caused by mutation in CITED2",
            "description": ""
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "atrial heart septal defect type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "atrial septal defect 8",
            "description": ""
        },
        {
            "id": "MONDO:0013750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "name": "atrial septal defect type 8",
            "description": ""
        },
        {
            "id": "MIM:614433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614433",
            "name": "Atrial septal defect 8",
            "description": "Atrial septal defect 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110113",
            "categories": []
        },
        {
            "id": "MONDO:0013750",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013750",
            "categories": []
        },
        {
            "id": "MIM:614433",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614433",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35740-1",
            "uniprot_ac": "O35740",
            "uniprot_id": "CITE2_MOUSE",
            "refseq_ac": "NP_034958",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cbp/p300-interacting transactivator 2",
                    "type": "recommended"
                },
                {
                    "name": "MRG-1",
                    "type": "synonym"
                },
                {
                    "name": "MSG-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "P35srj",
                    "type": "synonym"
                },
                {
                    "name": "cbp/p300-interacting transactivator 2",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte specific gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cited2",
                    "type": "recommended"
                },
                {
                    "name": "Cited2",
                    "type": "synonym"
                },
                {
                    "name": "ER154-like",
                    "type": "synonym"
                },
                {
                    "name": "Mrg1",
                    "type": "synonym"
                },
                {
                    "name": "Msg2",
                    "type": "synonym"
                },
                {
                    "name": "p35srj",
                    "type": "synonym"
                }
            ],
            "record_id": "O35740-1",
            "evidence": [
                {
                    "id": "0110113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99967-1",
            "uniprot_ac": "Q99967",
            "uniprot_id": "CITE2_HUMAN",
            "refseq_ac": "NP_001161860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cbp/p300-interacting transactivator 2",
                    "type": "recommended"
                },
                {
                    "name": "Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2",
                    "type": "synonym"
                },
                {
                    "name": "MRG-1",
                    "type": "synonym"
                },
                {
                    "name": "MSG-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MSG1-related gene 1",
                    "type": "synonym"
                },
                {
                    "name": "P35srj",
                    "type": "synonym"
                },
                {
                    "name": "cbp/p300-interacting transactivator 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-specific gene 1-related gene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CITED2",
                    "type": "recommended"
                },
                {
                    "name": "ASD8",
                    "type": "synonym"
                },
                {
                    "name": "CITED2",
                    "type": "synonym"
                },
                {
                    "name": "MRG-1",
                    "type": "synonym"
                },
                {
                    "name": "MRG1",
                    "type": "synonym"
                },
                {
                    "name": "P35SRJ",
                    "type": "synonym"
                },
                {
                    "name": "VSD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99967-1",
            "evidence": [
                {
                    "id": "614433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614433"
                },
                {
                    "id": "0110113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYT9-1",
            "uniprot_ac": "B2RYT9",
            "uniprot_id": "TACO1_RAT",
            "refseq_ac": "NP_001101772",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translational activator of cytochrome c oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "Translational activator of mitochondrially-encoded cytochrome c oxidase I",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 44",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 44",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of cytochrome c oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "translational activator of mitochondrially-encoded cytochrome c oxidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taco1",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc44",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306784",
                    "type": "synonym"
                },
                {
                    "name": "Taco1",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYT9-1",
            "evidence": [
                {
                    "id": "0110113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MA1-1",
            "uniprot_ac": "Q99MA1",
            "uniprot_id": "Q99MA1_RAT",
            "refseq_ac": "NP_446150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cbp/p300-interacting transactivator 2",
                    "type": "recommended"
                },
                {
                    "name": "Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2",
                    "type": "synonym"
                },
                {
                    "name": "cbp/p300-interacting transactivator 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cited2",
                    "type": "recommended"
                },
                {
                    "name": "Cited2",
                    "type": "synonym"
                },
                {
                    "name": "Mrg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MA1-1",
            "evidence": [
                {
                    "id": "0110113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110113"
}