{
  "id": 11651,
  "label": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010493",
  "properties": {
    "xrefs": [
      "DOID:0111897",
      "GARD:0015275",
      "MEDGEN:895657",
      "OMIM:300946",
      "UMLS:C4225422"
    ],
    "synonyms": [
      "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive",
      "Diamond-Blackfan anaemia caused by mutation in TSR2",
      "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
      "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive",
      "Diamond-Blackfan anemia caused by mutation in TSR2",
      "TSR2 Diamond-Blackfan anaemia",
      "TSR2 Diamond-Blackfan anemia",
      "DBA14"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16139,
      "label": "Diamond-Blackfan anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3893,
        3901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1339",
          "GARD:0006274",
          "MEDGEN:266045",
          "MESH:D029503",
          "MedDRA:10062989",
          "NANDO:1200890",
          "NANDO:2200614",
          "NCIT:C61236",
          "NORD:773",
          "OMIMPS:105650",
          "Orphanet:124",
          "SCTID:88854002",
          "UMLS:C1260899"
        ],
        "synonyms": [
          "Aase syndrome",
          "Aase-Smith II syndrome",
          "Blackfan-Diamond anaemia",
          "Blackfan-Diamond anemia",
          "DBA",
          "Diamond Blackfan Anemia",
          "Diamond-Blackfan anemia",
          "chronic constitutional pure red cell anemia",
          "congenital PRCA",
          "congenital hypoplastic anaemia",
          "congenital hypoplastic anemia",
          "congenital hypoplastic anemia, Blackfan-Diamond type",
          "congenital pure red cell aplasia",
          "erythrogenesis imperfecta",
          "inherited erythroblastopenia",
          "BDS",
          "Blackfan Diamond syndrome",
          "Red cell aplasia, pure hereditary",
          "anaemia Diamond Blackfan type",
          "anaemia congenital erythroid hypoplastic",
          "anemia Diamond Blackfan type",
          "anemia congenital erythroid hypoplastic",
          "aregenerative anaemia chronic congenital",
          "aregenerative anemia chronic congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A congenital aregenerative and often macrocytic anemia with erythroblastopenia."
      },
      "child_count": 44,
      "reference_id": "MONDO:0015253"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16139,
      "label": "Diamond-Blackfan anemia"
    }
  ]
}