{
  "id": 16630,
  "label": "functional neutrophil defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015978",
  "properties": {
    "xrefs": [
      "GARD:0020321",
      "MEDGEN:1863601",
      "Orphanet:183681",
      "SCTID:105600002",
      "UMLS:C5924997",
      "icd11.foundation:808756909"
    ],
    "synonyms": [
      "neutrophil disease",
      "neutrophilopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6569,
      "label": "leukocyte disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9500",
          "ICD9:288",
          "ICD9:288.9",
          "MEDGEN:7325",
          "MESH:D007960",
          "SCTID:54097007",
          "UMLS:C0023510"
        ],
        "synonyms": [
          "disease of leukocyte",
          "disease or disorder of leukocyte",
          "disorder of leukocyte",
          "disorder, leukocyte",
          "disorders, leukocyte",
          "leukocyte disease",
          "leukocyte disease or disorder",
          "leukocyte disorder",
          "white blood cell disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving leukocytes."
      },
      "child_count": 46,
      "reference_id": "MONDO:0004805"
    }
  ],
  "children": [
    {
      "id": 10716,
      "label": "Papillon-Lefevre disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4686,
        7611,
        16630,
        17917,
        17972,
        25051
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3389",
          "GARD:0003100",
          "ICD9:759.89",
          "MEDGEN:45306",
          "MESH:D010214",
          "NCIT:C84992",
          "NORD:1552",
          "OMIM:245000",
          "Orphanet:678",
          "SCTID:40158001",
          "UMLS:C0030360"
        ],
        "synonyms": [
          "PLS",
          "Papillon Lefèvre Syndrome",
          "keratosis palmoplantar-periodontopathy syndrome",
          "Keratoris palmoplantaris with periodontopathia",
          "PALS",
          "PAPILLON-Lefevre syndrome",
          "Papillon-LEFèvre syndrome",
          "Pls",
          "hyperkeratosis palmoplantaris with periodontosis",
          "keratosis palmoplantar - periodontopathy",
          "keratosis palmoplantaris with periodontopathia",
          "palmar-plantar hyperkeratosis and concomitant periodontal destruction",
          "palmoplantar keratoderma with periodontosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009490"
    },
    {
      "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"
    },
    {
      "id": 10908,
      "label": "myeloperoxidase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16630,
        21540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003868",
          "ICD9:288.8",
          "MEDGEN:96015",
          "MESH:C562864",
          "NANDO:1200358",
          "NANDO:2200758",
          "OMIM:254600",
          "Orphanet:2587",
          "SCTID:234433009",
          "UMLS:C0398595",
          "icd11.foundation:1933575033"
        ],
        "synonyms": [
          "MPO deficiency",
          "myeloperoxidase deficiency",
          "MPOD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009694"
    },
    {
      "id": 13059,
      "label": "neutrophil immunodeficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16630,
        18070
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112064",
          "GARD:0017087",
          "MEDGEN:374920",
          "MESH:C564275",
          "OMIM:608203",
          "Orphanet:183707",
          "SCTID:723443003",
          "UMLS:C1842398",
          "icd11.foundation:1459690929"
        ],
        "synonyms": [
          "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis",
          "neutrophil immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011988"
    },
    {
      "id": 17851,
      "label": "leukocyte adhesion deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6612",
          "GARD:0016616",
          "MEDGEN:124419",
          "NANDO:1200355",
          "NANDO:2200755",
          "NCIT:C27874",
          "Orphanet:2968",
          "SCTID:77358003",
          "UMLS:C0272187",
          "icd11.foundation:317341989"
        ],
        "synonyms": [
          "LAD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017570"
    }
  ],
  "roots": [
    {
      "id": 6569,
      "label": "leukocyte disorder"
    }
  ]
}