{
    "disease_id": "DOID:0060021",
    "recommended_name": {
        "id": "DOID:0060021",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060021",
        "name": "DNA ligase IV deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060021",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060021",
            "name": "LIG4 Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "DNA ligase IV deficiency",
            "description": "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)."
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "DNA ligase IV deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "LIG4 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "ligase 4 syndrome",
            "description": ""
        },
        {
            "id": "MIM:606593",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606593",
            "name": "LIG4 syndrome",
            "description": "LIG4 syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060021"
    ],
    "unlinked_id_list": []
}