{
  "id": 13979,
  "label": "Diamond-Blackfan anemia 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012939",
  "properties": {
    "xrefs": [
      "DOID:0111881",
      "GARD:0015570",
      "MEDGEN:390817",
      "MESH:C567253",
      "NCIT:C176917",
      "OMIM:612563",
      "UMLS:C2675511"
    ],
    "synonyms": [
      "Diamond-Blackfan Anaemia type 8",
      "Diamond-Blackfan Anemia type 8",
      "Diamond-Blackfan anaemia caused by mutation in RPS7",
      "Diamond-Blackfan anemia 8",
      "Diamond-Blackfan anemia caused by mutation in RPS7",
      "RPS7 Diamond-Blackfan anaemia",
      "RPS7 Diamond-Blackfan anemia",
      "DBA8"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 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"
    }
  ]
}