{
  "id": 19221,
  "label": "Fanconi anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019391",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 22,
  "parents": [
    {
      "id": 3000,
      "label": "congenital anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022807",
          "MEDGEN:102361",
          "NCIT:C35228",
          "SCTID:63565007",
          "UMLS:C0158995"
        ],
        "synonyms": [
          "congenital anaemia (disease)",
          "congenital anemia",
          "congenital anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia, the cause of which is present at birth."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000577"
    },
    {
      "id": 3901,
      "label": "inherited aplastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16610
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1342",
          "GARD:0018889",
          "ICD10CM:D61.0",
          "ICD9:284.0",
          "ICD9:284.09",
          "MEDGEN:1826154",
          "MESH:D029502",
          "NANDO:1200302",
          "NANDO:2201275",
          "Orphanet:397692",
          "Orphanet:68383",
          "SCTID:28975000",
          "UMLS:C5681331"
        ],
        "synonyms": [
          "constitutional aplastic anaemia",
          "constitutional aplastic anemia",
          "hereditary aplastic anaemia",
          "hereditary aplastic anemia",
          "rare constitutional aplastic anaemia",
          "rare constitutional aplastic anemia",
          "congenital aplastic anaemia",
          "congenital aplastic anemia",
          "congenital hypoplastic anaemia",
          "congenital hypoplastic anemia",
          "hypoplastic anaemia - familial",
          "hypoplastic anemia - familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001713"
    },
    {
      "id": 5177,
      "label": "bone marrow disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        6893,
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4961",
          "GARD:0023414",
          "ICD9:289.9",
          "MEDGEN:892905",
          "MESH:D001855",
          "NCIT:C34433",
          "SCTID:127035006",
          "UMLS:C4021634"
        ],
        "synonyms": [
          "bone marrow disease",
          "bone marrow disease or disorder",
          "bone marrow disorder",
          "disease of bone marrow",
          "disease or disorder of bone marrow",
          "disorder of bone marrow"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any disease of the bone marrow."
      },
      "child_count": 21,
      "reference_id": "MONDO:0003225"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    }
  ],
  "children": [
    {
      "id": 10456,
      "label": "Fanconi anemia complementation group C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111087",
          "GARD:0015168",
          "MEDGEN:483324",
          "NCIT:C125704",
          "OMIM:227645",
          "UMLS:C3468041"
        ],
        "synonyms": [
          "FA3",
          "FACC",
          "FANCC",
          "Fanconi Anemia, complementation group type C",
          "Fanconi anaemia complementation group type C",
          "Fanconi anemia complementation group C",
          "Fanconi anemia complementation group type C",
          "Fanconi anemia, complementation group C",
          "Fanconi pancytopenia, type 3",
          "facc"
        ],
        "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 FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009213"
    },
    {
      "id": 10457,
      "label": "Fanconi anemia complementation group D2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111083",
          "GARD:0015169",
          "MEDGEN:463627",
          "NCIT:C125706",
          "OMIM:227646",
          "UMLS:C3160738"
        ],
        "synonyms": [
          "FA4",
          "FAD2",
          "FANCD2",
          "Fanconi anemia complementation group D2",
          "Fad2",
          "Fanconi Anemia, complementation group D",
          "Fanconi anemia, complementation group D2",
          "Fanconi pancytopenia, type 4"
        ],
        "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 FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009214"
    },
    {
      "id": 10458,
      "label": "Fanconi anemia complementation group A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221,
        19479
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009215"
    },
    {
      "id": 11518,
      "label": "Fanconi anemia complementation group B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111098",
          "GARD:0015257",
          "MEDGEN:336901",
          "MESH:C564497",
          "NCIT:C125703",
          "OMIM:300514",
          "UMLS:C1845292"
        ],
        "synonyms": [
          "FA2",
          "FACB",
          "FANCB",
          "Fanconi Anemia, complementation group type B",
          "Fanconi anaemia complementation group type B",
          "Fanconi anemia complementation group B",
          "Fanconi anemia complementation group type B",
          "Fanconi anemia, complementation group B, X-linked recessive",
          "Fanconi anemia, complementation group B",
          "Fanconi pancytopenia, type 2"
        ],
        "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 FANCB gene. This gene encodes the protein for complementation group B."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010351"
    },
    {
      "id": 12083,
      "label": "Fanconi anemia complementation group E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111084",
          "GARD:0015324",
          "MEDGEN:463628",
          "NCIT:C125709",
          "OMIM:600901",
          "UMLS:C3160739"
        ],
        "synonyms": [
          "FACE",
          "FANCE",
          "FANCE Fanconi anaemia",
          "FANCE Fanconi anemia",
          "Fanconi Anemia, complementation group type E",
          "Fanconi anaemia caused by mutation in FANCE",
          "Fanconi anaemia complementation group type E",
          "Fanconi anemia caused by mutation in FANCE",
          "Fanconi anemia complementation group E",
          "Fanconi anemia complementation group type E",
          "face",
          "Fanconi anemia, complementation group E"
        ],
        "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 FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010953"
    },
    {
      "id": 12438,
      "label": "Fanconi anemia complementation group F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111088",
          "GARD:0015355",
          "MEDGEN:854016",
          "NCIT:C125707",
          "OMIM:603467",
          "UMLS:C3469526"
        ],
        "synonyms": [
          "FANCF",
          "Fanconi Anemia, complementation group type F",
          "Fanconi anaemia complementation group type F",
          "Fanconi anemia complementation group F",
          "Fanconi anemia complementation group type F",
          "Fanconi anemia, complementation group F"
        ],
        "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 FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011325"
    },
    {
      "id": 12680,
      "label": "Fanconi anemia complementation group D1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111089",
          "GARD:0017449",
          "MEDGEN:325420",
          "MESH:C563980",
          "NCIT:C125705",
          "OMIM:605724",
          "Orphanet:319462",
          "SCTID:766707003",
          "UMLS:C1838457"
        ],
        "synonyms": [
          "FAD1",
          "FANCD1",
          "Fanconi anemia complementation group D1",
          "Fad1",
          "Fanconi anemia, complementation group D1",
          "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011584"
    },
    {
      "id": 13249,
      "label": "Fanconi anemia complementation group I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012186"
    },
    {
      "id": 13250,
      "label": "Fanconi anemia complementation group J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111097",
          "GARD:0015449",
          "MEDGEN:323015",
          "MESH:C563801",
          "NCIT:C129027",
          "OMIM:609054",
          "UMLS:C1836860"
        ],
        "synonyms": [
          "FANCJ",
          "Fanconi Anemia, complementation group type J",
          "Fanconi anaemia complementation group type J",
          "Fanconi anemia complementation group J",
          "Fanconi anemia complementation group type J",
          "Fanconi anemia, complementation group J"
        ],
        "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 BRIP1 gene, encoding Fanconi anemia group J protein."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012187"
    },
    {
      "id": 13612,
      "label": "Fanconi anemia complementation group N",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111094",
          "GARD:0015500",
          "MEDGEN:372133",
          "MESH:C563657",
          "OMIM:610832",
          "UMLS:C1835817"
        ],
        "synonyms": [
          "FANCN",
          "Fanconi Anemia, complementation group type N",
          "Fanconi anaemia caused by mutation in PALB2",
          "Fanconi anaemia complementation group type N",
          "Fanconi anemia caused by mutation in PALB2",
          "Fanconi anemia complementation group N",
          "Fanconi anemia complementation group type N",
          "PALB2 Fanconi anaemia",
          "PALB2 Fanconi anemia",
          "Fanconi anemia, complementation group N"
        ],
        "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 PALB2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012565"
    },
    {
      "id": 14284,
      "label": "Fanconi anemia complementation group O",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013248"
    },
    {
      "id": 14529,
      "label": "Fanconi anemia complementation group P",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111092",
          "GARD:0015731",
          "MEDGEN:854020",
          "OMIM:613951",
          "UMLS:C3469542"
        ],
        "synonyms": [
          "FANCP",
          "Fanconi Anemia, complementation group type P",
          "Fanconi anaemia caused by mutation in SLX4",
          "Fanconi anaemia caused by mutation in Slx4",
          "Fanconi anaemia complementation group type P",
          "Fanconi anemia caused by mutation in SLX4",
          "Fanconi anemia caused by mutation in Slx4",
          "Fanconi anemia complementation group type P",
          "SLX4 Fanconi anaemia",
          "SLX4 Fanconi anemia",
          "Slx4 Fanconi anaemia",
          "Slx4 Fanconi anemia",
          "Fanconi anemia, complementation group P"
        ],
        "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 SLX4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013499"
    },
    {
      "id": 14593,
      "label": "Fanconi anemia complementation group G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111086",
          "GARD:0015753",
          "MEDGEN:854017",
          "NCIT:C125708",
          "OMIM:614082",
          "UMLS:C3469527"
        ],
        "synonyms": [
          "FANCG",
          "Fanconi Anemia, complementation group type G",
          "Fanconi anaemia complementation group type G",
          "Fanconi anemia complementation group G",
          "Fanconi anemia complementation group type G",
          "Fanconi anemia, complementation group G"
        ],
        "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 FANCG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013565"
    },
    {
      "id": 14594,
      "label": "Fanconi anemia complementation group L",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111082",
          "GARD:0015754",
          "MEDGEN:854018",
          "OMIM:614083",
          "UMLS:C3469528"
        ],
        "synonyms": [
          "FANCL",
          "FANCL Fanconi anaemia",
          "FANCL Fanconi anemia",
          "Fanconi Anemia, complementation group type 50",
          "Fanconi anaemia caused by mutation in FANCL",
          "Fanconi anaemia complementation group type L",
          "Fanconi anemia caused by mutation in FANCL",
          "Fanconi anemia complementation group L",
          "Fanconi anemia complementation group type L",
          "Fanconi Anemia, complementation Group 50",
          "Fanconi anemia, complementation group L"
        ],
        "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 FANCL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013566"
    },
    {
      "id": 15117,
      "label": "Fanconi anemia complementation group Q",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111093",
          "GARD:0015934",
          "MEDGEN:815318",
          "OMIM:615272",
          "UMLS:C3808988"
        ],
        "synonyms": [
          "ERCC4 Fanconi anaemia",
          "ERCC4 Fanconi anemia",
          "FANCQ",
          "Fanconi Anemia, complementation group type Q",
          "Fanconi anaemia caused by mutation in ERCC4",
          "Fanconi anaemia complementation group type Q",
          "Fanconi anemia caused by mutation in ERCC4",
          "Fanconi anemia complementation group type Q",
          "Fanconi anemia, complementation group Q"
        ],
        "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 ERCC4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014108"
    },
    {
      "id": 15634,
      "label": "Fanconi anemia complementation group T",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111081",
          "GARD:0016111",
          "MEDGEN:896157",
          "OMIM:616435",
          "UMLS:C4084840"
        ],
        "synonyms": [
          "FANCT",
          "Fanconi Anemia, complementation group type T",
          "Fanconi anaemia caused by mutation in UBE2T",
          "Fanconi anaemia complementation group type T",
          "Fanconi anemia caused by mutation in UBE2T",
          "Fanconi anemia complementation group type T",
          "UBE2T Fanconi anaemia",
          "UBE2T Fanconi anemia",
          "Fanconi anemia, complementation group T"
        ],
        "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 UBE2T gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014638"
    },
    {
      "id": 15962,
      "label": "Fanconi anemia complementation group V",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014985"
    },
    {
      "id": 15963,
      "label": "Fanconi anemia complementation group R",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111090",
          "GARD:0016214",
          "MEDGEN:924579",
          "OMIM:617244",
          "UMLS:C4284093"
        ],
        "synonyms": [
          "FANCR",
          "Fanconi Anemia, complementation group R",
          "Fanconi Anemia, complementation group type R",
          "Fanconi anaemia caused by mutation in RAD51",
          "Fanconi anaemia complementation group type R",
          "Fanconi anemia caused by mutation in RAD51",
          "Fanconi anemia complementation group type R",
          "RAD51 Fanconi anaemia",
          "RAD51 Fanconi anemia",
          "Fanconi anemia, complementation GROUP R"
        ],
        "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 RAD51 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014986"
    },
    {
      "id": 15964,
      "label": "Fanconi anemia complementation group U",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111085",
          "GARD:0016215",
          "MEDGEN:934618",
          "OMIM:617247",
          "UMLS:C4310651"
        ],
        "synonyms": [
          "FANCU",
          "Fanconi Anemia, complementation group U",
          "Fanconi Anemia, complementation group type U",
          "Fanconi anaemia caused by mutation in XRCC2",
          "Fanconi anaemia complementation group type U",
          "Fanconi anemia caused by mutation in XRCC2",
          "Fanconi anemia complementation group type U",
          "XRCC2 Fanconi anaemia",
          "XRCC2 Fanconi anemia",
          "Fanconi anemia, complementation GROUP U"
        ],
        "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 XRCC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014987"
    },
    {
      "id": 23328,
      "label": "Fanconi anemia, complementation group W",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060978",
          "GARD:0025895",
          "MEDGEN:1621245",
          "OMIM:617784",
          "UMLS:C4521564"
        ],
        "synonyms": [
          "Fanconi anemia, complementation group W",
          "FANCW"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044325"
    },
    {
      "id": 23611,
      "label": "Fanconi anemia, complementation group S",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060979",
          "GARD:0016264",
          "MEDGEN:1632414",
          "OMIM:617883",
          "UMLS:C4554406"
        ],
        "synonyms": [
          "Fanconi anemia, complementation group S",
          "FANCS",
          "Fanconi anemia, complementation GROUP S"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054748"
    },
    {
      "id": 26250,
      "label": "fanconi anemia, complementation group 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028114",
          "MEDGEN:1876506",
          "OMIM:621258",
          "UMLS:C6012745"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979241"
    }
  ],
  "roots": [
    {
      "id": 3000,
      "label": "congenital anemia"
    },
    {
      "id": 3901,
      "label": "inherited aplastic anemia"
    },
    {
      "id": 5177,
      "label": "bone marrow disorder"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    }
  ]
}