{
  "id": 14284,
  "label": "Fanconi anemia complementation group O",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013248",
  "properties": {
    "xrefs": [
      "DOID:0111096",
      "GARD:0015656",
      "MEDGEN:462003",
      "OMIM:613390",
      "UMLS:C3150653"
    ],
    "synonyms": [
      "FANCO",
      "Fanconi Anemia, complementation group type O",
      "Fanconi anaemia caused by mutation in RAD51C",
      "Fanconi anaemia caused by mutation in Rad51C",
      "Fanconi anaemia complementation group type O",
      "Fanconi anemia caused by mutation in RAD51C",
      "Fanconi anemia caused by mutation in Rad51C",
      "Fanconi anemia complementation group type O",
      "RAD51C Fanconi anaemia",
      "RAD51C Fanconi anemia",
      "Rad51C Fanconi anaemia",
      "Rad51C Fanconi anemia",
      "Fanconi anemia, complementation group O"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19221,
      "label": "Fanconi anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        3901,
        5177,
        16089,
        16198,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13636",
          "GARD:0006425",
          "ICD9:284.09",
          "MEDGEN:41967",
          "MESH:D005199",
          "MedDRA:10055206",
          "NANDO:1200303",
          "NANDO:1200891",
          "NANDO:2200652",
          "NCIT:C62505",
          "NORD:1132",
          "OMIMPS:227650",
          "Orphanet:84",
          "SCTID:30575002",
          "UMLS:C0015625"
        ],
        "synonyms": [
          "Fanconi anemia",
          "Fanconi pancytopenia",
          "Fanconi's anemia",
          "Panmyelopathy, Fanconi",
          "pancytopenia, congenital",
          "primary erythroid hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."
      },
      "child_count": 132,
      "reference_id": "MONDO:0019391"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19221,
      "label": "Fanconi anemia"
    }
  ]
}