{
  "id": 11548,
  "label": "X-linked lymphoproliferative disease due to XIAP deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010385",
  "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."
  },
  "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"
    }
  ]
}