{
    "disease_id": "DOID:0061090",
    "recommended_name": {
        "id": "DOID:0061090",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061090",
        "name": "severe combined immunodeficiency 124",
        "description": "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos-XLF deficiency",
            "description": "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia."
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos XLFD",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "Cernunnos-XLF deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "NHEJ1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0012650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012650",
            "name": "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:611291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611291",
            "name": "Immunodeficiency 124, severe combined",
            "description": "Immunodeficiency 124, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061090"
    ],
    "unlinked_id_list": []
}