{
  "id": 23296,
  "label": "specific granule deficiency 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044207",
  "properties": {
    "xrefs": [
      "GARD:0025882",
      "MEDGEN:1644049",
      "OMIM:245480",
      "UMLS:C4551556"
    ],
    "synonyms": [
      "specific granule deficiency",
      "CEBPE specific granule deficiency",
      "specific granule deficiency 1",
      "specific granule deficiency caused by mutation in CEBPE",
      "SGD1",
      "lactoferrin-deficient neutrophils",
      "neutrophil lactoferrin deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10731,
      "label": "specific granule deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16630,
        21540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010778",
          "MEDGEN:140766",
          "MESH:C562873",
          "OMIMPS:245480",
          "Orphanet:169142",
          "SCTID:234587000",
          "UMLS:C0398593"
        ],
        "synonyms": [
          "neutrophil-specific granule deficiency",
          "recurrent infection due to specific granule deficiency",
          "specific granule deficiency",
          "SGD",
          "lactoferrin-deficient neutrophils",
          "neutrophil lactoferrin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0009506"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10731,
      "label": "specific granule deficiency"
    }
  ]
}