{
  "id": 21496,
  "label": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024551",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11773,
      "label": "X-linked lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        17033,
        20334
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010627"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080012",
          "MEDGEN:1798083",
          "UMLS:C5566660"
        ],
        "definition": "X-linked recessive form of disease."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020605"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11773,
      "label": "X-linked lymphoproliferative syndrome"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease"
    }
  ]
}