{
  "id": 21772,
  "label": "autosomal recessive severe congenital neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0028226",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": [
    {
      "id": 13596,
      "label": "Kostmann syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16218,
        21772
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012548"
    },
    {
      "id": 13970,
      "label": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112136",
          "GARD:0017511",
          "MEDGEN:414066",
          "OMIM:612541",
          "Orphanet:331176",
          "UMLS:C2751630"
        ],
        "synonyms": [
          "SCN4",
          "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency",
          "neutropenia, severe congenital 4, autosomal recessive",
          "severe congenital neutropenia type 4",
          "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome",
          "Dursun syndrome",
          "neutropenia, severe congenital, 4, autosomal recessive",
          "pulmonary arterial hypertension, leukopenia, and atrial septal defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012930"
    },
    {
      "id": 15126,
      "label": "congenital neutropenia-myelofibrosis-nephromegaly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112132",
          "GARD:0017585",
          "MEDGEN:815361",
          "OMIM:615285",
          "Orphanet:369852",
          "UMLS:C3809031"
        ],
        "synonyms": [
          "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
          "vps45 deficiency",
          "SCN5",
          "neutropenia, severe congenital, 5, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014118"
    },
    {
      "id": 15456,
      "label": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112134",
          "GARD:0017702",
          "MEDGEN:863391",
          "OMIM:616022",
          "Orphanet:423384",
          "UMLS:C4014954"
        ],
        "synonyms": [
          "SCN6",
          "neutropenia, severe congenital, 6, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014456"
    },
    {
      "id": 15847,
      "label": "autosomal recessive severe congenital neutropenia due to CSF3R deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112129",
          "GARD:0017698",
          "MEDGEN:934731",
          "OMIM:617014",
          "Orphanet:420702",
          "UMLS:C4310764"
        ],
        "synonyms": [
          "neutropenia, Severe congenital, 7, autosomal recessive",
          "SCN7",
          "neutropenia, severe congenital, 7, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014865"
    },
    {
      "id": 18525,
      "label": "autosomal recessive severe congenital neutropenia due to CXCR2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021747",
          "MEDGEN:1682018",
          "Orphanet:420699",
          "UMLS:C5190862"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018487"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18559,
      "label": "severe congenital neutropenia"
    }
  ]
}