{
  "id": 18428,
  "label": "activated PI3K-delta syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018338",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16629,
      "label": "agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2583",
          "GARD:0020320",
          "ICD9:279.00",
          "MEDGEN:168",
          "MESH:D000361",
          "MedDRA:10001471",
          "OMIMPS:601495",
          "Orphanet:183669",
          "UMLS:C0001768"
        ],
        "synonyms": [
          "agammaglobulinemia",
          "Gammaglobulin Deficiency",
          "Immunoglobulin Deficiency",
          "antibody Deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes."
      },
      "child_count": 10,
      "reference_id": "MONDO:0015977"
    }
  ],
  "children": [
    {
      "id": 15228,
      "label": "immunodeficiency 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18428
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111936",
          "GARD:0015979",
          "MEDGEN:811535",
          "NORD:111933",
          "OMIM:615513",
          "Orphanet:693661",
          "UMLS:C3714976"
        ],
        "synonyms": [
          "Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)",
          "immunodeficiency 14",
          "immunodeficiency 14A, autosomal dominant",
          "immunodeficiency type 14",
          "Activated PI3K-Delta syndrome",
          "IMD14",
          "p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014222"
    },
    {
      "id": 15453,
      "label": "immunodeficiency 36 with lymphoproliferation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18428,
        29311
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014453"
    }
  ],
  "roots": [
    {
      "id": 16629,
      "label": "agammaglobulinemia"
    }
  ]
}