{
  "id": 14172,
  "label": "familial hemophagocytic lymphohistiocytosis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013135",
  "properties": {
    "xrefs": [
      "DOID:0110925",
      "GARD:0015614",
      "MEDGEN:416514",
      "MESH:C567752",
      "NANDO:2200731",
      "OMIM:613101",
      "UMLS:C2751293"
    ],
    "synonyms": [
      "FHL5",
      "STXBP2 genetic hemophagocytic lymphohistiocytosis",
      "familial hemophagocytic lymphohistiocytosis type 5",
      "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2",
      "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",
      "hemophagocytic lymphohistiocytosis, familial, type 5",
      "hemophagocytic lymphohistiocytosis, familial, 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714,
        16354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006589",
          "ICD9:238.79",
          "MEDGEN:78797",
          "MedDRA:10070904",
          "OMIMPS:267700",
          "Orphanet:540",
          "SCTID:398250003",
          "UMLS:C0272199"
        ],
        "synonyms": [
          "familial hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic syndrome",
          "primary hemophagocytic lymphohistiocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015541"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis"
    }
  ]
}