{
    "disease_id": "DOID:0090012",
    "recommended_name": {
        "id": "DOID:0090012",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090012",
        "name": "severe combined immunodeficiency with sensitivity to ionizing radiation",
        "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency due to artemis deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "SCID due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "SCID due to artemis deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "SCID, Athabascan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "SCID, Athabaskan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency, Athabascan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency, Athabaskan type",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "artemis deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090012",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090012",
            "name": "Severe combined immunodeficiency due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to DCLRE1C deficiency",
            "description": "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "DCLRE1C severe combined immunodeficiency (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID due to ARTEMIS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID due to artemis deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, Athabascan type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, Athabaskan type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to ARTEMIS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to DCLRE1C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency due to artemis deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "Athabaskan Severe combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "RS-SCID",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "artemis deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency with sensitivity to ionising radiation",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency with sensitivity to ionizing radiation",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency, Athabascan type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency, Athabaskan type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency, Athabaskan-type",
            "description": ""
        },
        {
            "id": "MONDO:0011225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011225",
            "name": "severe combined immunodeficiency, partial",
            "description": ""
        },
        {
            "id": "MIM:602450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602450",
            "name": "Severe combined immunodeficiency Athabaskan type",
            "description": "Severe combined immunodeficiency Athabaskan type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090012"
    ],
    "unlinked_id_list": []
}