{
    "disease_id": "DOID:0070345",
    "recommended_name": {
        "id": "DOID:0070345",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070345",
        "name": "vertebral anomalies and variable endocrine and T-cell dysfunction",
        "description": "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments."
    },
    "synonyms": [
        {
            "id": "DOID:0070345",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070345",
            "name": "heterozygotes for TBX2 variants",
            "description": ""
        },
        {
            "id": "MONDO:0032607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032607",
            "name": "vertebral anomalies and variable endocrine and T-cell dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0032607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032607",
            "name": "VETD",
            "description": ""
        },
        {
            "id": "MIM:618223",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618223",
            "name": "Vertebral anomalies and variable endocrine and T-cell dysfunction",
            "description": "Vertebral anomalies and variable endocrine and T-cell dysfunction"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070345"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070345",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070345",
            "categories": []
        },
        {
            "id": "MONDO:0032607",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032607",
            "categories": []
        },
        {
            "id": "MIM:618223",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618223",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCU2-1",
            "uniprot_ac": "A0A8M2BCU2",
            "uniprot_id": "A0A8M2BCU2_DANRE",
            "refseq_ac": "XP_005165613",
            "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 TBX2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx2a",
                    "type": "recommended"
                },
                {
                    "name": "tbx-a",
                    "type": "synonym"
                },
                {
                    "name": "tbx2a",
                    "type": "synonym"
                },
                {
                    "name": "tbx2l",
                    "type": "synonym"
                },
                {
                    "name": "tbxa",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85705",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCU2-1",
            "evidence": [
                {
                    "id": "0070345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7ZTU9-1",
            "uniprot_ac": "Q7ZTU9",
            "uniprot_id": "TBX2_DANRE",
            "refseq_ac": "NP_571126",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX2b",
                    "type": "recommended"
                },
                {
                    "name": "T-box 2b",
                    "type": "synonym"
                },
                {
                    "name": "T-box gene C",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 2b",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX2b",
                    "type": "synonym"
                },
                {
                    "name": "fby",
                    "type": "synonym"
                },
                {
                    "name": "lor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx2b",
                    "type": "recommended"
                },
                {
                    "name": "hm:zeh1581",
                    "type": "synonym"
                },
                {
                    "name": "tbx-c",
                    "type": "synonym"
                },
                {
                    "name": "tbx2b",
                    "type": "synonym"
                },
                {
                    "name": "tbx2",
                    "type": "synonym"
                },
                {
                    "name": "tbxc",
                    "type": "synonym"
                },
                {
                    "name": "zeh1581",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZTU9-1",
            "evidence": [
                {
                    "id": "0070345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60707-1",
            "uniprot_ac": "Q60707",
            "uniprot_id": "TBX2_MOUSE",
            "refseq_ac": "NP_033350",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX2",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 2",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx2",
                    "type": "recommended"
                },
                {
                    "name": "Tbx2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60707-1",
            "evidence": [
                {
                    "id": "0070345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13207-1",
            "uniprot_ac": "Q13207",
            "uniprot_id": "TBX2_HUMAN",
            "refseq_ac": "NP_005985",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX2",
                    "type": "recommended"
                },
                {
                    "name": "T-box 2",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 2",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX2",
                    "type": "recommended"
                },
                {
                    "name": "TBX2",
                    "type": "synonym"
                },
                {
                    "name": "VETD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13207-1",
            "evidence": [
                {
                    "id": "618223",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618223"
                },
                {
                    "id": "0070345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M0C0-1",
            "uniprot_ac": "F1M0C0",
            "uniprot_id": "F1M0C0_RAT",
            "refseq_ac": "NP_001388735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box 2",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx2",
                    "type": "recommended"
                },
                {
                    "name": "Tbx2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M0C0-1",
            "evidence": [
                {
                    "id": "0070345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24432-1",
            "uniprot_ac": "Q24432",
            "uniprot_id": "OMB_DROME",
            "refseq_ac": "NP_001162662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optomotor-blind protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3578-PB",
                    "type": "synonym"
                },
                {
                    "name": "L(1)omb",
                    "type": "synonym"
                },
                {
                    "name": "Lethal(1)optomotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "Optimotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "Protein bifid",
                    "type": "synonym"
                },
                {
                    "name": "bi-PB",
                    "type": "synonym"
                },
                {
                    "name": "bifid, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "lethal(l)optomotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "opomoter-blind",
                    "type": "synonym"
                },
                {
                    "name": "optimotor blind",
                    "type": "synonym"
                },
                {
                    "name": "optomer-blind",
                    "type": "synonym"
                },
                {
                    "name": "optomoter blind",
                    "type": "synonym"
                },
                {
                    "name": "optomoter-blind",
                    "type": "synonym"
                },
                {
                    "name": "optomotor blind",
                    "type": "synonym"
                },
                {
                    "name": "optomotor-blind gene",
                    "type": "synonym"
                },
                {
                    "name": "optomotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "optomotorblind",
                    "type": "synonym"
                },
                {
                    "name": "quadroon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bi",
                    "type": "recommended"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "CG3578",
                    "type": "synonym"
                },
                {
                    "name": "Dm-OMB",
                    "type": "synonym"
                },
                {
                    "name": "Dm-omb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3578",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3578",
                    "type": "synonym"
                },
                {
                    "name": "OMB",
                    "type": "synonym"
                },
                {
                    "name": "Omb",
                    "type": "synonym"
                },
                {
                    "name": "Qd",
                    "type": "synonym"
                },
                {
                    "name": "T3",
                    "type": "synonym"
                },
                {
                    "name": "TBX2",
                    "type": "synonym"
                },
                {
                    "name": "bi",
                    "type": "synonym"
                },
                {
                    "name": "dm-omb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)bi",
                    "type": "synonym"
                },
                {
                    "name": "l(1)omb",
                    "type": "synonym"
                },
                {
                    "name": "omb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24432-1",
            "evidence": [
                {
                    "id": "0070345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070345"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070345"
}