{
  "id": 10547,
  "label": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009309",
  "properties": {
    "xrefs": [
      "DOID:0070192",
      "GARD:0015176",
      "MEDGEN:341102",
      "MESH:C565532",
      "NANDO:2201281",
      "OMIM:233700",
      "UMLS:C1856251"
    ],
    "synonyms": [
      "NCF1 chronic granulomatous disease",
      "chronic granulomatous disease 1, autosomal recessive",
      "chronic granulomatous disease caused by mutation in NCF1",
      "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",
      "CDG1",
      "CGD, autosomal recessive cytochrome B-positive, type 1",
      "Ncf1, deficiency of",
      "Soc2, deficiency of",
      "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I",
      "granulomatous disease, chronic, due to Ncf1 deficiency",
      "neutrophil cytosol Factor 1, deficiency of",
      "p47-PHOX, deficiency of",
      "soluble oxidase component II, deficiency of"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18402,
      "label": "chronic granulomatous disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7512,
        20399,
        21540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3265",
          "GARD:0006100",
          "MEDGEN:5377",
          "MESH:D006105",
          "MedDRA:10008906",
          "NANDO:1200357",
          "NANDO:2200757",
          "NCIT:C26788",
          "NORD:968",
          "OMIMPS:306400",
          "Orphanet:379",
          "SCTID:387759001",
          "UMLS:C0018203",
          "icd11.foundation:1329764681"
        ],
        "synonyms": [
          "CGD",
          "chronic septic granulomatosis",
          "granulomatous disease, chronic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas."
      },
      "child_count": 28,
      "reference_id": "MONDO:0018305"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18402,
      "label": "chronic granulomatous disease"
    }
  ]
}