{
  "id": 29331,
  "label": "ELANE-related neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060165",
  "properties": {
    "xrefs": [
      "GARD:0028170"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any neutropenia in which the cause of the disease is a mutation in the ELANE gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 3689,
      "label": "neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1227",
          "HP:0001875",
          "ICD9:288.0",
          "ICD9:288.00",
          "MEDGEN:163121",
          "MESH:D009503",
          "SCTID:303011007",
          "UMLS:C0853697",
          "icd11.foundation:926492960"
        ],
        "synonyms": [
          "neutropenia",
          "neutropenic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A decrease in the number of neutrophils found in the blood."
      },
      "child_count": 4,
      "reference_id": "MONDO:0001475"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 9409,
      "label": "cyclic hematopoiesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16076,
        29331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5339",
          "GARD:0006229",
          "ICD10CM:D70.4",
          "ICD9:288.02",
          "MEDGEN:65121",
          "MESH:C536227",
          "MedDRA:10053176",
          "NANDO:1200354",
          "NANDO:2200746",
          "NCIT:C3820",
          "OMIM:162800",
          "Orphanet:2686",
          "SCTID:191347008",
          "UMLS:C0221023"
        ],
        "synonyms": [
          "CH",
          "CN",
          "cyclic agranulocytosis",
          "cyclic hematopoiesis",
          "dysplasia, myelocytic periodic",
          "neutropenia, cyclic",
          "periodic neutropenia",
          "cyclic neutropenia",
          "neutropenia cyclic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008090"
    },
    {
      "id": 23064,
      "label": "neutropenia, severe congenital, 1, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10015,
        29331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080625",
          "GARD:0025849",
          "MEDGEN:348506",
          "MESH:C565969",
          "OMIM:202700",
          "UMLS:C1859966"
        ],
        "synonyms": [
          "neutropenia, severe congenital 1, autosomal dominant",
          "neutropenia, severe congenital, 1, autosomal dominant",
          "SCN1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0042490"
    }
  ],
  "roots": [
    {
      "id": 3689,
      "label": "neutropenia"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}