{
  "id": 13249,
  "label": "Fanconi anemia complementation group I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012186",
  "properties": {
    "xrefs": [
      "DOID:0111091",
      "GARD:0015448",
      "MEDGEN:323016",
      "MESH:C563802",
      "NCIT:C129026",
      "OMIM:609053",
      "UMLS:C1836861"
    ],
    "synonyms": [
      "FANCI",
      "Fanconi Anemia, complementation group type 1",
      "Fanconi anaemia complementation group type I",
      "Fanconi anemia complementation group I",
      "Fanconi anemia complementation group type I",
      "Fanconi Anemia, complementation Group 1",
      "Fanconi anemia, complementation group I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein."
  },
  "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"
    }
  ]
}