{
    "disease_id": "DOID:0112253",
    "recommended_name": {
        "id": "DOID:0112253",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112253",
        "name": "combined cellular and humoral immune defects with granulomas",
        "description": "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12."
    },
    "synonyms": [
        {
            "id": "DOID:0112253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112253",
            "name": "combined immunodeficiency due to RAG 1/2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112253",
            "name": "CCHIDG",
            "description": ""
        },
        {
            "id": "DOID:0112253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112253",
            "name": "CID due to RAG 1/2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112253",
            "name": "combined immunodeficiency with granulomatosis",
            "description": ""
        },
        {
            "id": "DOID:0112253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112253",
            "name": "combined immunodeficiency with skin granulomas",
            "description": ""
        },
        {
            "id": "MONDO:0009306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009306",
            "name": "combined immunodeficiency with skin granulomas",
            "description": ""
        },
        {
            "id": "MONDO:0009306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009306",
            "name": "CID due to RAG 1/2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009306",
            "name": "combined immunodeficiency due to RAG 1/2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009306",
            "name": "CCHIDG",
            "description": ""
        },
        {
            "id": "MONDO:0009306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009306",
            "name": "combined cellular and humoral immune defects with granulomas",
            "description": ""
        },
        {
            "id": "MIM:233650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233650",
            "name": "Combined cellular and humoral immune defects with granulomas",
            "description": "Combined cellular and humoral immune defects with granulomas"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112253"
    ],
    "unlinked_id_list": []
}