{
    "disease_id": "DOID:0070345", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0070345", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070345", 
            "name": "heterozygotes for TBX2 variants"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070345", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070345", 
        "name": "vertebral anomalies and variable endocrine and T-cell dysfunction"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070345#disease-associations", 
            "id": "0070345", 
            "database": "Alliance of Genome Resources"
        }
    ]
}