{
  "id": 15492,
  "label": "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014493",
  "properties": {
    "xrefs": [
      "GARD:0012316",
      "MEDGEN:863651",
      "NCIT:C126341",
      "OMIM:616100",
      "Orphanet:436159",
      "UMLS:C4015214"
    ],
    "synonyms": [
      "ALPS due to CTLA4 haploinsufficiency",
      "ALPS type 5",
      "ALPS type V",
      "CHAI",
      "CTLA-4 haploinsufficiency with autoimmune infiltration disease",
      "CTLA4 haploinsufficiency",
      "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency",
      "autoimmune lymphoproliferative syndrome type 5",
      "autoimmune lymphoproliferative syndrome type V",
      "chai",
      "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation",
      "ALPS5",
      "CTLA4 haploinsufficiency with autoimmune infiltration",
      "autoimmune lymphoproliferative syndrome, type 5",
      "autoimmune lymphoproliferative syndrome, type V"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18157,
      "label": "autoimmune lymphoproliferative syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4539,
        8586,
        17033,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "CSP:1560-5548",
          "DOID:6688",
          "GARD:0008686",
          "ICD10CM:D89.82",
          "MESH:D056735",
          "MedDRA:10069521",
          "NANDO:1200352",
          "NANDO:2200726",
          "NCIT:C37864",
          "Orphanet:3261",
          "icd11.foundation:1072688797"
        ],
        "synonyms": [
          "ALPS",
          "ALPS (autoimmune lymphoproliferative syndrome)",
          "Canale-Smith syndrome",
          "FAS deficiency",
          "autoimmune lymphoproliferative syndrome type 1, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma."
      },
      "child_count": 36,
      "reference_id": "MONDO:0017979"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18157,
      "label": "autoimmune lymphoproliferative syndrome"
    }
  ]
}