{
  "id": 14176,
  "label": "neutropenia, severe congenital, 2, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013139",
  "properties": {
    "xrefs": [
      "DOID:0112131",
      "GARD:0015616",
      "MEDGEN:413975",
      "MESH:C567748",
      "OMIM:613107",
      "UMLS:C2751288"
    ],
    "synonyms": [
      "GFI1 autosomal dominant severe congenital neutropenia",
      "autosomal dominant severe congenital neutropenia caused by mutation in GFI1",
      "neutropenia, severe congenital 2, autosomal dominant",
      "neutropenia, severe congenital, 2, autosomal dominant",
      "SCN2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10015,
      "label": "autosomal dominant severe congenital neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112130",
          "GARD:0009558",
          "MEDGEN:1665322",
          "NCIT:C166155",
          "Orphanet:486",
          "UMLS:C4749612"
        ],
        "synonyms": [
          "severe congenital neutropenia, autosomal dominant",
          "severe congenital neutropenia autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Autosomal dominant form of severe congenital neutropenia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008742"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10015,
      "label": "autosomal dominant severe congenital neutropenia"
    }
  ]
}