{
  "id": 11466,
  "label": "X-linked severe congenital neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010294",
  "properties": {
    "xrefs": [
      "DOID:0112128",
      "GARD:0003981",
      "MEDGEN:335314",
      "MESH:C564539",
      "NANDO:2200753",
      "OMIM:300299",
      "Orphanet:86788",
      "SCTID:718882006",
      "UMLS:C1845987"
    ],
    "synonyms": [
      "X-linked severe congenital neutropenia",
      "neutropenia, severe congenital, X-linked, X-linked recessive",
      "severe congenital neutropenia, X-linked",
      "SCNX",
      "Xln",
      "neutropenia, severe congenital, X-linked",
      "severe congenital neutropenia X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 18559,
      "label": "severe congenital neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050590",
          "GARD:0013592",
          "ICD9:288.01",
          "MEDGEN:343974",
          "MedDRA:10052210",
          "NANDO:1200353",
          "NANDO:2200745",
          "NCIT:C166152",
          "NORD:1705",
          "OMIMPS:202700",
          "Orphanet:42738",
          "SCTID:89655007",
          "UMLS:C1853118"
        ],
        "synonyms": [
          "SCN",
          "Severe Chronic Neutropenia",
          "neutropenia, severe congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0018542"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 18559,
      "label": "severe congenital neutropenia"
    }
  ]
}