{
  "id": 18402,
  "label": "chronic granulomatous disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018305",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "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"
    },
    {
      "id": 7512,
      "label": "phagocyte bactericidal dysfunction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6569,
        21541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3262",
          "EFO:0007433",
          "GARD:0024253",
          "MEDGEN:14713",
          "MESH:D010585",
          "UMLS:C0031306"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005910"
    },
    {
      "id": 20399,
      "label": "inflammatory disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:799.89",
          "MEDGEN:452939",
          "NCIT:C93210",
          "SCTID:128139000",
          "UMLS:C1290884"
        ],
        "synonyms": [
          "anatomical structure inflammation",
          "inflammation of anatomical structure",
          "inflammatory disease",
          "inflammatory disorder"
        ],
        "definition": "A disease involving a pathogenic inflammatory response in the anatomical structure."
      },
      "child_count": 94,
      "reference_id": "MONDO:0021166"
    },
    {
      "id": 21540,
      "label": "defective phagocytic cell engulfment",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:585050",
          "SCTID:234585008",
          "UMLS:C0398742"
        ],
        "synonyms": [
          "defective phagocytic cell killing"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0024626"
    }
  ],
  "children": [
    {
      "id": 10545,
      "label": "granulomatous disease with defect in neutrophil chemotaxis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024657",
          "MEDGEN:383873",
          "MESH:C565534",
          "OMIM:233670",
          "UMLS:C1856261"
        ],
        "synonyms": [
          "granulomatous disease with defect in neutrophil chemotaxis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009307"
    },
    {
      "id": 10546,
      "label": "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070193",
          "GARD:0015175",
          "MEDGEN:383872",
          "MESH:C565533",
          "NANDO:2201280",
          "OMIM:233690",
          "UMLS:C1856255"
        ],
        "synonyms": [
          "chronic granulomatous disease 4, autosomal recessive",
          "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",
          "CGD due to deficiency of the Alpha Subunit of cytochrome B",
          "CGD, autosomal recessive cytochrome B-negative",
          "Cyba deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009308"
    },
    {
      "id": 10547,
      "label": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009309"
    },
    {
      "id": 10548,
      "label": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070191",
          "GARD:0015177",
          "MEDGEN:383869",
          "MESH:C565531",
          "NANDO:2201282",
          "OMIM:233710",
          "UMLS:C1856245"
        ],
        "synonyms": [
          "NCF2 chronic granulomatous disease",
          "chronic granulomatous disease 2, autosomal recessive",
          "chronic granulomatous disease caused by mutation in NCF2",
          "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",
          "CDG2",
          "CGD, autosomal recessive cytochrome B-positive, type 2",
          "Ncf2, deficiency of",
          "P67-PHOX, deficiency of",
          "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II",
          "granulomatous disease, chronic, due to Ncf2 deficiency",
          "neutrophil cytosol Factor 2, 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 NCF2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009310"
    },
    {
      "id": 11750,
      "label": "granulomatous disease, chronic, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070190",
          "DOID:0070195",
          "GARD:0015294",
          "MEDGEN:336165",
          "MESH:C564210",
          "OMIM:138990",
          "OMIM:306400",
          "UMLS:C1844376"
        ],
        "synonyms": [
          "CGD",
          "chronic granulomatous disease, X-linked",
          "chronic granulomatous disease, X-linked, X-linked recessive",
          "chronic granulomatous disease, atypical",
          "cytochrome B-negative granulomatous disease, chronic, X-linked",
          "cytochrome B-positive granulomatous disease, chronic, X-linked",
          "granulomatous disease, chronic, X-linked",
          "granulomatous disease, chronic, X-linked, variant",
          "granulomatous disease, chronic, autosomal dominant type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010600"
    },
    {
      "id": 14537,
      "label": "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070194",
          "GARD:0015736",
          "MEDGEN:462759",
          "NANDO:2201283",
          "OMIM:613960",
          "UMLS:C3151409"
        ],
        "synonyms": [
          "chronic granulomatous disease 3, autosomal recessive",
          "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3",
          "CDG3",
          "CGD, autosomal recessive cytochrome B-positive, type 3",
          "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III",
          "granulomatous disease, chronic, due to Ncf4 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013507"
    },
    {
      "id": 21842,
      "label": "granulomatous disease, chronic, autosomal recessive, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070368",
          "GARD:0016395",
          "MEDGEN:1710326",
          "OMIM:618935",
          "UMLS:C5394542"
        ],
        "synonyms": [
          "CGD5",
          "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5",
          "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency",
          "chronic granulomatous disease 5, autosomal recessive",
          "granulomatous disease, chronic, autosomal recessive, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030066"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7512,
      "label": "phagocyte bactericidal dysfunction"
    },
    {
      "id": 20399,
      "label": "inflammatory disease"
    },
    {
      "id": 21540,
      "label": "defective phagocytic cell engulfment"
    }
  ]
}