{
  "id": 18559,
  "label": "severe congenital neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018542",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10015,
      "label": "autosomal dominant severe congenital neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112130",
          "GARD:0009558",
          "MEDGEN:1665322",
          "NCIT:C166155",
          "Orphanet:486",
          "UMLS:C4749612"
        ],
        "synonyms": [
          "severe congenital neutropenia, autosomal dominant",
          "severe congenital neutropenia autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Autosomal dominant form of severe congenital neutropenia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008742"
    },
    {
      "id": 11466,
      "label": "X-linked severe congenital neutropenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        18559
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010294"
    },
    {
      "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"
    },
    {
      "id": 22026,
      "label": "neutropenia, severe congenital, 9, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025625",
          "MEDGEN:1802793",
          "OMIM:619813",
          "UMLS:C5676954"
        ],
        "synonyms": [
          "SCN9",
          "neutropenia, severe congenital, 9, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030726"
    },
    {
      "id": 22551,
      "label": "neutropenia, severe congenital, 8, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112135",
          "GARD:0016375",
          "MEDGEN:1684816",
          "OMIM:618752",
          "Orphanet:675767",
          "UMLS:C5203411"
        ],
        "synonyms": [
          "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT",
          "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities",
          "SCN8",
          "Shwachman-Diamond Syndrome-Like"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032899"
    },
    {
      "id": 25747,
      "label": "neutropenia, severe congenital, 10, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026875",
          "MEDGEN:1851433",
          "OMIM:620534",
          "UMLS:C5882756"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957809"
    },
    {
      "id": 25800,
      "label": "neutropenia, severe congenital, 11, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026911",
          "MEDGEN:1846394",
          "OMIM:620674",
          "UMLS:C5882742"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958017"
    },
    {
      "id": 26381,
      "label": "neutropenia, severe congenital, 12, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18559
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621439"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980936"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16076,
      "label": "constitutional neutropenia"
    }
  ]
}