{
    "disease_id": "DOID:0060707",
    "recommended_name": {
        "id": "DOID:0060707",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060707",
        "name": "lymphoproliferative syndrome 1",
        "description": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060707",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060707",
            "name": "LPFS1",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome 1",
            "description": "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.."
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "ITK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "ITK lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "LPFS1",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome caused by mutation in ITK",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:613011",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613011",
            "name": "Lymphoproliferative syndrome 1",
            "description": "Lymphoproliferative syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060707"
    ],
    "unlinked_id_list": []
}