{
    "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": []
}