{
    "disease_id": "DOID:0110109",
    "recommended_name": {
        "id": "DOID:0110109",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110109",
        "name": "atrial heart septal defect 4",
        "description": "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110109",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110109",
            "name": "ASD4",
            "description": ""
        },
        {
            "id": "DOID:0110109",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110109",
            "name": "atrial septal defect 4",
            "description": ""
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "atrial septal defect 4",
            "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene."
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "ASD4",
            "description": ""
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "TBX20 atrial heart septal defect",
            "description": ""
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "atrial heart septal defect caused by mutation in TBX20",
            "description": ""
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "atrial heart septal defect type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "atrial septal defect 4",
            "description": ""
        },
        {
            "id": "MONDO:0012654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "name": "atrial septal defect type 4",
            "description": ""
        },
        {
            "id": "MIM:611363",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611363",
            "name": "Atrial septal defect 4",
            "description": "Atrial septal defect 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110109"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110109",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110109",
            "categories": []
        },
        {
            "id": "MONDO:0012654",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012654",
            "categories": []
        },
        {
            "id": "MIM:611363",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611363",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9I9K7-1",
            "uniprot_ac": "Q9I9K7",
            "uniprot_id": "TBX20_DANRE",
            "refseq_ac": "NP_571581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "recommended"
                },
                {
                    "name": "H15-related T-box transcription factor hrT",
                    "type": "synonym"
                },
                {
                    "name": "T-box 20",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 20",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx20",
                    "type": "recommended"
                },
                {
                    "name": "ZF-TBX20",
                    "type": "synonym"
                },
                {
                    "name": "cb826",
                    "type": "synonym"
                },
                {
                    "name": "hrt",
                    "type": "synonym"
                },
                {
                    "name": "tbx20",
                    "type": "synonym"
                },
                {
                    "name": "whz",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I9K7-1",
            "evidence": [
                {
                    "id": "0110109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES03-1",
            "uniprot_ac": "Q9ES03",
            "uniprot_id": "TBX20_MOUSE",
            "refseq_ac": "NP_001192014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 20",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx20",
                    "type": "recommended"
                },
                {
                    "name": "9430010M06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbx12",
                    "type": "synonym"
                },
                {
                    "name": "Tbx20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES03-1",
            "evidence": [
                {
                    "id": "0110109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMR3-1",
            "uniprot_ac": "Q9UMR3",
            "uniprot_id": "TBX20_HUMAN",
            "refseq_ac": "NP_001071121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "recommended"
                },
                {
                    "name": "T-box 20",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 20",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX20",
                    "type": "recommended"
                },
                {
                    "name": "ASD4",
                    "type": "synonym"
                },
                {
                    "name": "TBX20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMR3-1",
            "evidence": [
                {
                    "id": "611363",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611363"
                },
                {
                    "id": "0110109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KAH3-1",
            "uniprot_ac": "A0A0G2KAH3",
            "uniprot_id": "A0A0G2KAH3_RAT",
            "refseq_ac": "NP_001388019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "recommended"
                },
                {
                    "name": "T-box 20",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx20",
                    "type": "recommended"
                },
                {
                    "name": "Tbx20",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KAH3-1",
            "evidence": [
                {
                    "id": "0110109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMR2-1",
            "uniprot_ac": "Q9VMR2",
            "uniprot_id": "Q9VMR2_DROME",
            "refseq_ac": "NP_001260096",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6634-PB",
                    "type": "synonym"
                },
                {
                    "name": "H15-related",
                    "type": "synonym"
                },
                {
                    "name": "Midline, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Midline, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "extra",
                    "type": "synonym"
                },
                {
                    "name": "lost in space",
                    "type": "synonym"
                },
                {
                    "name": "mid-PB",
                    "type": "synonym"
                },
                {
                    "name": "midline, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "midline",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer 1",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer 2",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mid",
                    "type": "recommended"
                },
                {
                    "name": "CG6634",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6634",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6634",
                    "type": "synonym"
                },
                {
                    "name": "H15r/nmr2",
                    "type": "synonym"
                },
                {
                    "name": "H15r",
                    "type": "synonym"
                },
                {
                    "name": "H15",
                    "type": "synonym"
                },
                {
                    "name": "MID",
                    "type": "synonym"
                },
                {
                    "name": "Mid(H15)",
                    "type": "synonym"
                },
                {
                    "name": "Mid",
                    "type": "synonym"
                },
                {
                    "name": "TBX20",
                    "type": "synonym"
                },
                {
                    "name": "extra",
                    "type": "synonym"
                },
                {
                    "name": "los",
                    "type": "synonym"
                },
                {
                    "name": "mid",
                    "type": "synonym"
                },
                {
                    "name": "nmr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMR2-1",
            "evidence": [
                {
                    "id": "0110109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94890-1",
            "uniprot_ac": "Q94890",
            "uniprot_id": "H15_DROME",
            "refseq_ac": "NP_608926",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box protein H15",
                    "type": "recommended"
                },
                {
                    "name": "CG6604-PA",
                    "type": "synonym"
                },
                {
                    "name": "H15, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "H15-PA",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer 1",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer 2",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer-1",
                    "type": "synonym"
                },
                {
                    "name": "neuromancer1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "H15",
                    "type": "recommended"
                },
                {
                    "name": "CG6604",
                    "type": "synonym"
                },
                {
                    "name": "Dm-H15",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6604",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6604",
                    "type": "synonym"
                },
                {
                    "name": "H15",
                    "type": "synonym"
                },
                {
                    "name": "Nmr-1",
                    "type": "synonym"
                },
                {
                    "name": "Nmr1",
                    "type": "synonym"
                },
                {
                    "name": "Nmr",
                    "type": "synonym"
                },
                {
                    "name": "Tbx20",
                    "type": "synonym"
                },
                {
                    "name": "dm-H15",
                    "type": "synonym"
                },
                {
                    "name": "nmr1",
                    "type": "synonym"
                },
                {
                    "name": "nmr[H15]",
                    "type": "synonym"
                },
                {
                    "name": "nmr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94890-1",
            "evidence": [
                {
                    "id": "0110109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110109"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110109"
}