{
  "id": 15453,
  "label": "immunodeficiency 36 with lymphoproliferation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014453",
  "properties": {
    "xrefs": [
      "DOID:0111949",
      "GARD:0016046",
      "MEDGEN:863371",
      "OMIM:616005",
      "Orphanet:693681",
      "UMLS:C4014934"
    ],
    "synonyms": [
      "APDS2",
      "IMD36",
      "activated PI3K-delta syndrome-2",
      "immunodeficiency 36",
      "immunodeficiency type 36"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18428,
      "label": "activated PI3K-delta syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011983",
          "ICD9:279.8",
          "MESH:C585640",
          "Orphanet:397596",
          "SCTID:711480000"
        ],
        "synonyms": [
          "APDS",
          "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0018338"
    },
    {
      "id": 29311,
      "label": "PIK3R1-related immunodeficiency and SHORT syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060136"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18428,
      "label": "activated PI3K-delta syndrome"
    },
    {
      "id": 29311,
      "label": "PIK3R1-related immunodeficiency and SHORT syndrome"
    }
  ]
}