{
  "id": 29391,
  "label": "WHIM syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:8000006",
  "properties": {
    "xrefs": [
      "DOID:0060591",
      "GARD:0009297",
      "MEDGEN:1778124",
      "MESH:C536697",
      "NORD:1849",
      "OMIM:193670",
      "Orphanet:51636",
      "SCTID:234571003",
      "UMLS:C5542296"
    ],
    "synonyms": [
      "WHIM syndrome",
      "WHIM Syndrome",
      "WHIMS",
      "WILM",
      "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome",
      "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome",
      "Warts-infections-leukopenia-myelokatexis syndrome",
      "myelokathexis, isolated"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "id": 21279,
      "label": "WHIM syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:96875",
          "OMIMPS:193670",
          "UMLS:C0472817"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0023880"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 21279,
      "label": "WHIM syndrome"
    }
  ]
}