{
  "id": 12447,
  "label": "familial hemophagocytic lymphohistiocytosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011337",
  "properties": {
    "xrefs": [
      "DOID:0110922",
      "GARD:0009922",
      "MEDGEN:400366",
      "MESH:C537250",
      "NANDO:2200728",
      "OMIM:603553",
      "UMLS:C1863727"
    ],
    "synonyms": [
      "FHL2",
      "HLH2",
      "HPLH2",
      "PRF1 genetic hemophagocytic lymphohistiocytosis",
      "familial hemophagocytic lymphohistiocytosis type 2",
      "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1",
      "hemophagocytic lymphohistiocytosis, familial, type 2",
      "Hlh2",
      "Hplh2",
      "hemophagocytic lymphohistiocytosis, familial, 2"
    ],
    "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 PRF1 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"
    }
  ]
}