{
  "id": 11773,
  "label": "X-linked lymphoproliferative syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010627",
  "properties": {
    "xrefs": [
      "DOID:0060705",
      "GARD:0010915",
      "ICD9:238.79",
      "MEDGEN:107498",
      "MedDRA:10068348",
      "NANDO:1200351",
      "NANDO:2200725",
      "NCIT:C61246",
      "NORD:1865",
      "Orphanet:2442",
      "SCTID:77121009",
      "UMLS:C0549463"
    ],
    "synonyms": [
      "Duncan disease",
      "Purtilo syndrome",
      "X linked Lymphoproliferative Syndrome",
      "X-linked lymphoproliferative syndrome",
      "lymphoproliferative syndrome, X-linked",
      "X-linked lymphoproliferative syndrome type 1",
      "XLP1",
      "lymphoproliferative syndrome, X-linked, type 1",
      "SH2D1A-related lymphoproliferative disease, X-linked",
      "X-linked lymphoproliferative disease",
      "X-linked lymphoproliferative syndrome 1",
      "XLP",
      "lymphoproliferative syndrome X-linked 1",
      "lymphoproliferative syndrome, X-linked, 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060704",
          "GARD:0020633",
          "MEDGEN:6162",
          "MESH:D008232",
          "NCIT:C9308",
          "OMIMPS:308240",
          "Orphanet:238510",
          "SCTID:277466009",
          "UMLS:C0024314"
        ],
        "synonyms": [
          "lymphoproliferative disorder",
          "lymphoproliferative syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016537"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:279.3",
          "MEDGEN:7034",
          "NANDO:2100204",
          "NCIT:C3131",
          "OMIMPS:300755",
          "SCTID:234532001",
          "UMLS:C0021051"
        ],
        "synonyms": [
          "immuno-deficiency",
          "immunodeficiency",
          "immunodeficiency disorder",
          "immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021094"
    }
  ],
  "children": [
    {
      "id": 11548,
      "label": "X-linked lymphoproliferative disease due to XIAP deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11773,
        20040
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060706",
          "GARD:0010916",
          "MEDGEN:336848",
          "MESH:C564469",
          "NCIT:C126295",
          "OMIM:300635",
          "Orphanet:538934",
          "UMLS:C1845076"
        ],
        "synonyms": [
          "X-linked lymphoproliferative disease due to XIAP deficiency",
          "X-linked lymphoproliferative syndrome type 2",
          "XIAP deficiency",
          "XIAP deficiency/XLPs",
          "XLP2",
          "lymphoproliferative syndrome, X-linked, 2, X-linked recessive",
          "lymphoproliferative syndrome, X-linked, type 2",
          "XIAP-related lymphoproliferative disease, X-linked",
          "Xiap deficiency",
          "lymphoproliferative syndrome, X-linked, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010385"
    },
    {
      "id": 21496,
      "label": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11773,
        20040
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007906",
          "MEDGEN:1770239",
          "OMIM:308240",
          "Orphanet:538931",
          "UMLS:C5399825"
        ],
        "synonyms": [
          "X-linked lymphoproliferative disease due to SH2D1A deficiency",
          "lymphoproliferative syndrome, X-linked, 1, X-linked recessive",
          "Duncan disease",
          "EBV infection, Severe, susceptibility to",
          "Epstein-Barr Virus infection, familial fatal",
          "Lyp",
          "Purtilo syndrome",
          "XLP1",
          "Xlp",
          "immunodeficiency 5",
          "immunodeficiency, X-linked progressive combined variable",
          "infectious mononucleosis, Severe, susceptibility to",
          "lymphoproliferative disease, X-linked",
          "lymphoproliferative syndrome, X-linked, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024551"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 17033,
      "label": "lymphoproliferative syndrome"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}