{
  "id": 10458,
  "label": "Fanconi anemia complementation group A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009215",
  "properties": {
    "xrefs": [
      "DOID:0111095",
      "GARD:0015170",
      "GTR:AN1051558",
      "MEDGEN:483333",
      "NCIT:C125702",
      "OMIM:227650",
      "UMLS:C3469521"
    ],
    "synonyms": [
      "FANCA",
      "FANCA Fanconi anaemia",
      "FANCA Fanconi anemia",
      "Fanconi Anemia, complementation group type a",
      "Fanconi anaemia caused by mutation in FANCA",
      "Fanconi anaemia complementation group type A",
      "Fanconi anemia caused by mutation in FANCA",
      "Fanconi anemia complementation group A",
      "Fanconi anemia complementation group type A",
      "Estren-Dameshek variant of Fanconi Anaemia",
      "Estren-Dameshek variant of Fanconi Anemia",
      "Estren-Dameshek variant of Fanconi pancytopenia",
      "Fanconi Anaemia",
      "Fanconi Anemia",
      "Fanconi Anemia, Estren-Dameshek variant",
      "Fanconi anemia, complementation group A"
    ],
    "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 of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway."
  },
  "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"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19221,
      "label": "Fanconi anemia"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}