{
    "disease_id": "DOID:0110112",
    "recommended_name": {
        "id": "DOID:0110112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110112",
        "name": "atrial heart septal defect 7",
        "description": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0110112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110112",
            "name": "ASD with or without atrioventricular conduction defects",
            "description": ""
        },
        {
            "id": "DOID:0110112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110112",
            "name": "atrial septal defect-atrioventricular conduction defects syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110112",
            "name": "atrial septal defect 7, with or without AV conduction defects",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "atrial septal defect 7",
            "description": "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block."
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "ASD with or without atrioventricular conduction defects",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "NKX2-5 atrial heart septal defect",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "atrial heart septal defect caused by mutation in NKX2-5",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "atrial heart septal defect type 7",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "atrial septal defect-atrioventricular conduction defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "ASD7",
            "description": ""
        },
        {
            "id": "MONDO:0007173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "name": "atrial septal defect 7 with or without atrioventricular conduction defects",
            "description": ""
        },
        {
            "id": "MIM:108900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108900",
            "name": "Atrial septal defect 7, with or without atrioventricular conduction defects",
            "description": "Atrial septal defect 7, with or without atrioventricular conduction defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110112",
            "categories": []
        },
        {
            "id": "MONDO:0007173",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007173",
            "categories": []
        },
        {
            "id": "MIM:108900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZK3-1",
            "uniprot_ac": "A0A8N7UZK3",
            "uniprot_id": "A0A8N7UZK3_DANRE",
            "refseq_ac": "NP_571496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "NK2 transcription factor related 5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "tinman homeobox homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nkx2.5",
                    "type": "recommended"
                },
                {
                    "name": "nk2.5",
                    "type": "synonym"
                },
                {
                    "name": "nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu581",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111912",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZK3-1",
            "evidence": [
                {
                    "id": "0110112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42582-1",
            "uniprot_ac": "P42582",
            "uniprot_id": "NKX25_MOUSE",
            "refseq_ac": "NP_032726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac-specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "Drosophila NK2 transcription factor related, locus 5",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "cardiac-specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkx2-5",
                    "type": "recommended"
                },
                {
                    "name": "Csx",
                    "type": "synonym"
                },
                {
                    "name": "Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2e",
                    "type": "synonym"
                },
                {
                    "name": "tinman",
                    "type": "synonym"
                }
            ],
            "record_id": "P42582-1",
            "evidence": [
                {
                    "id": "0110112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52952-1",
            "uniprot_ac": "P52952",
            "uniprot_id": "NKX25_HUMAN",
            "refseq_ac": "NP_001159647",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac-specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "NK2 transcription factor related, locus 5",
                    "type": "synonym"
                },
                {
                    "name": "NKX 2-5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac-specific homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NKX 2-5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "tinman homolog",
                    "type": "synonym"
                },
                {
                    "name": "tinman paralog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NKX2-5",
                    "type": "recommended"
                },
                {
                    "name": "CHNG5",
                    "type": "synonym"
                },
                {
                    "name": "CSX1",
                    "type": "synonym"
                },
                {
                    "name": "CSX",
                    "type": "synonym"
                },
                {
                    "name": "HLHS2",
                    "type": "synonym"
                },
                {
                    "name": "NKX2-5",
                    "type": "synonym"
                },
                {
                    "name": "NKX2.5",
                    "type": "synonym"
                },
                {
                    "name": "NKX2E",
                    "type": "synonym"
                },
                {
                    "name": "NKX4-1",
                    "type": "synonym"
                },
                {
                    "name": "VSD3",
                    "type": "synonym"
                }
            ],
            "record_id": "P52952-1",
            "evidence": [
                {
                    "id": "108900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108900"
                },
                {
                    "id": "0110112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35767-1",
            "uniprot_ac": "O35767",
            "uniprot_id": "NKX25_RAT",
            "refseq_ac": "NP_446103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "rNKx-2.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkx2-5",
                    "type": "recommended"
                },
                {
                    "name": "Csx",
                    "type": "synonym"
                },
                {
                    "name": "Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2e",
                    "type": "synonym"
                }
            ],
            "record_id": "O35767-1",
            "evidence": [
                {
                    "id": "0110112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49621-1",
            "uniprot_ac": "P49621",
            "uniprot_id": "DGKB_RAT",
            "refseq_ac": "NP_062177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "90 kDa diacylglycerol kinase",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "DGK-beta",
                    "type": "synonym"
                },
                {
                    "name": "Diacylglycerol kinase 90kDa",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase beta, 90kDa",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride kinase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgkb",
                    "type": "recommended"
                },
                {
                    "name": "DGK-beta",
                    "type": "synonym"
                },
                {
                    "name": "Dagk2",
                    "type": "synonym"
                },
                {
                    "name": "Dagk",
                    "type": "synonym"
                },
                {
                    "name": "Dgkb",
                    "type": "synonym"
                }
            ],
            "record_id": "P49621-1",
            "evidence": [
                {
                    "id": "0110112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22711-1",
            "uniprot_ac": "P22711",
            "uniprot_id": "TIN_DROME",
            "refseq_ac": "NP_524433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle-specific homeobox protein tinman",
                    "type": "recommended"
                },
                {
                    "name": "CG7895-PA",
                    "type": "synonym"
                },
                {
                    "name": "Msh-2",
                    "type": "synonym"
                },
                {
                    "name": "NK-4",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific-homeodomain-2",
                    "type": "synonym"
                },
                {
                    "name": "tin-PA",
                    "type": "synonym"
                },
                {
                    "name": "tinman",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tin",
                    "type": "recommended"
                },
                {
                    "name": "CG7895",
                    "type": "synonym"
                },
                {
                    "name": "DROHOXHK4",
                    "type": "synonym"
                },
                {
                    "name": "DROHOXNK4",
                    "type": "synonym"
                },
                {
                    "name": "DmNK-4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7895",
                    "type": "synonym"
                },
                {
                    "name": "HOX",
                    "type": "synonym"
                },
                {
                    "name": "NK-4/msh-2",
                    "type": "synonym"
                },
                {
                    "name": "NK-4",
                    "type": "synonym"
                },
                {
                    "name": "NK4/msh-2",
                    "type": "synonym"
                },
                {
                    "name": "NK4",
                    "type": "synonym"
                },
                {
                    "name": "NKX2.5",
                    "type": "synonym"
                },
                {
                    "name": "TIN",
                    "type": "synonym"
                },
                {
                    "name": "Tinman",
                    "type": "synonym"
                },
                {
                    "name": "Tin",
                    "type": "synonym"
                },
                {
                    "name": "msh-2",
                    "type": "synonym"
                },
                {
                    "name": "msh2",
                    "type": "synonym"
                },
                {
                    "name": "tin/NK4",
                    "type": "synonym"
                },
                {
                    "name": "tin",
                    "type": "synonym"
                }
            ],
            "record_id": "P22711-1",
            "evidence": [
                {
                    "id": "0110112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110112"
}