{
  "id": 13596,
  "label": "Kostmann syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012548",
  "properties": {
    "xrefs": [
      "DOID:0112133",
      "GARD:0000302",
      "MEDGEN:1713491",
      "MESH:C537592",
      "NCIT:C166153",
      "OMIM:610738",
      "Orphanet:99749",
      "UMLS:C5235141",
      "icd11.foundation:421553273"
    ],
    "synonyms": [
      "infantile agranulocytosis",
      "neutropenia, severe congenital 3, autosomal recessive",
      "severe congenital neutropenia type 3",
      "Kostmann disease",
      "SCN3",
      "agranulocytosis infantile",
      "agranulocytosis, infantile",
      "neutropenia, severe congenital, 3, autosomal recessive",
      "severe congenital neutropenia autosomal recessive 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 21772,
      "label": "autosomal recessive severe congenital neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021834",
          "MEDGEN:1781858",
          "NCIT:C176624",
          "Orphanet:439849",
          "UMLS:C5447331"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0028226"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 21772,
      "label": "autosomal recessive severe congenital neutropenia"
    }
  ]
}