{
    "disease_id": "DOID:0060021", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011686", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011686", 
            "name": "LIG4 syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011686", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011686", 
            "name": "ligase 4 syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060021", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060021", 
            "name": "LIG4 Syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060021", 
        "description": "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060021", 
        "name": "DNA ligase IV deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060021#disease-associations", 
            "id": "0060021", 
            "database": "Alliance of Genome Resources"
        }
    ]
}