{
    "disease_id": "DOID:0111987",
    "recommended_name": {
        "id": "DOID:0111987",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111987",
        "name": "immunodeficiency 13",
        "description": "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111987",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "name": "ICL",
            "description": ""
        },
        {
            "id": "DOID:0111987",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "name": "IMD13",
            "description": ""
        },
        {
            "id": "DOID:0111987",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111987",
            "name": "idiopathic CD4 lymphopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "idiopathic CD4 lymphocytopenia",
            "description": "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed."
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "immunodeficiency type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "ICL",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "IMD13",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "idiopathic CD4 positive T-lymphocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014226",
            "name": "immunodeficiency 13",
            "description": ""
        },
        {
            "id": "MIM:615518",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615518",
            "name": "Immunodeficiency 13",
            "description": "Immunodeficiency 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111987"
    ],
    "unlinked_id_list": []
}
