{
  "id": 15962,
  "label": "Fanconi anemia complementation group V",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014985",
  "properties": {
    "xrefs": [
      "DOID:0111080",
      "GARD:0016213",
      "MEDGEN:934619",
      "OMIM:617243",
      "UMLS:C4310652"
    ],
    "synonyms": [
      "FANCV",
      "Fanconi Anemia, complementation group V",
      "Fanconi Anemia, complementation group type V",
      "Fanconi anaemia caused by mutation in MAD2L2",
      "Fanconi anaemia complementation group type V",
      "Fanconi anemia caused by mutation in MAD2L2",
      "Fanconi anemia complementation group type V",
      "MAD2L2 Fanconi anaemia",
      "MAD2L2 Fanconi anemia",
      "Fanconi Anemia, complementation Group 5",
      "Fanconi anemia, complementation GROUP V"
    ],
    "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 MAD2L2 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"
    }
  ]
}