{
  "id": 11175,
  "label": "familial hemophagocytic lymphohistiocytosis type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009974",
  "properties": {
    "xrefs": [
      "DOID:0110921",
      "GARD:0006590",
      "MEDGEN:1642840",
      "MedDRA:10070904",
      "NCIT:C61276",
      "OMIM:267700",
      "UMLS:C4551514"
    ],
    "synonyms": [
      "familial hemophagocytic lymphohistiocytosis",
      "FHL1",
      "HLH1",
      "HPLH1",
      "familial HLH",
      "familial hemophagocytic lymphohistiocytosis type 1",
      "Erythrophagocytic lymphohistiocytosis, familial",
      "Hlh1",
      "Hplh1",
      "familial hemophagocytic lymphohistiocytosis 1",
      "hemophagocytic lymphohistiocytosis, familial",
      "hemophagocytic lymphohistiocytosis, familial, 1",
      "hemophagocytic reticulosis, familial",
      "reticulosis, familial histiocytic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth."
  },
  "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}