{
  "id": 16139,
  "label": "Diamond-Blackfan anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015253",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 22,
  "parents": [
    {
      "id": 3893,
      "label": "pure red-cell aplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1340",
          "GARD:0007504",
          "ICD9:284.81",
          "MEDGEN:11154",
          "MESH:D012010",
          "NANDO:2100177",
          "NCIT:C34974",
          "NORD:1636",
          "SCTID:50715003",
          "UMLS:C0034902"
        ],
        "synonyms": [
          "PRCA",
          "Pure Red Cell Aplasia, Acquired",
          "pure red cell aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001705"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8523,
      "label": "Diamond-Blackfan anemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111895",
          "GARD:0015039",
          "MEDGEN:390966",
          "MESH:C567302",
          "NCIT:C176911",
          "OMIM:105650",
          "UMLS:C2676137"
        ],
        "synonyms": [
          "DBA",
          "Diamond-Blackfan Anaemia type 1",
          "Diamond-Blackfan Anemia type 1",
          "Diamond-Blackfan anaemia caused by mutation in RPS19",
          "Diamond-Blackfan anemia 1",
          "Diamond-Blackfan anemia caused by mutation in RPS19",
          "RPS19 Diamond-Blackfan anaemia",
          "RPS19 Diamond-Blackfan anemia",
          "Aase syndrome",
          "Aase-Smith syndrome 2",
          "Blackfan-Diamond syndrome",
          "DBA1",
          "Red cell aplasia, Pure, hereditary",
          "anemia, congenital erythroid hypoplastic",
          "anemia, congenital hypoplastic, of Blackfan and Diamond",
          "aregenerative Anemia, chronic congenital",
          "erythrogenesis imperfecta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007110"
    },
    {
      "id": 11651,
      "label": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010493"
    },
    {
      "id": 12731,
      "label": "Diamond-Blackfan anemia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111885",
          "GARD:0008283",
          "MEDGEN:344104",
          "MESH:C536130",
          "OMIM:606129",
          "UMLS:C1853666"
        ],
        "synonyms": [
          "Diamond-Blackfan anemia 2",
          "DBA2",
          "Diamond-Blackfan Anemia, 2",
          "anaemia Diamond-Blackfan 2",
          "anemia Diamond-Blackfan 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011636"
    },
    {
      "id": 12734,
      "label": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111894",
          "GARD:0015390",
          "MEDGEN:902755",
          "OMIM:606164",
          "UMLS:C4225411"
        ],
        "synonyms": [
          "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis",
          "Diamond Blackfan anemia 15 with mandibulofacial dysostosis",
          "Diamond-Blackfan anaemia caused by mutation in RPS28",
          "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis",
          "Diamond-Blackfan anemia caused by mutation in RPS28",
          "RPS28 Diamond-Blackfan anaemia",
          "RPS28 Diamond-Blackfan anemia",
          "DBA15"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011639"
    },
    {
      "id": 13577,
      "label": "Diamond-Blackfan anemia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111887",
          "GARD:0010241",
          "MEDGEN:387892",
          "MESH:C536355",
          "NCIT:C176912",
          "OMIM:610629",
          "UMLS:C1857719"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 3",
          "Diamond-Blackfan Anemia type 3",
          "Diamond-Blackfan anaemia caused by mutation in RPS24",
          "Diamond-Blackfan anemia 3",
          "Diamond-Blackfan anemia caused by mutation in RPS24",
          "RPS24 Diamond-Blackfan anaemia",
          "RPS24 Diamond-Blackfan anemia",
          "DBA3",
          "anaemia Diamond-Blackfan 3",
          "anemia Diamond-Blackfan 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012529"
    },
    {
      "id": 13964,
      "label": "Diamond-Blackfan anemia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111890",
          "GARD:0015561",
          "MEDGEN:393906",
          "MESH:C567281",
          "NCIT:C176913",
          "OMIM:612527",
          "UMLS:C2675860"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 4",
          "Diamond-Blackfan Anemia type 4",
          "Diamond-Blackfan anaemia caused by mutation in RPS17",
          "Diamond-Blackfan anemia 4",
          "Diamond-Blackfan anemia caused by mutation in RPS17",
          "RPS17 Diamond-Blackfan anaemia",
          "RPS17 Diamond-Blackfan anemia",
          "DBA4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012924"
    },
    {
      "id": 13965,
      "label": "Diamond-Blackfan anemia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111883",
          "GARD:0015562",
          "MEDGEN:382705",
          "MESH:C567280",
          "NCIT:C176914",
          "OMIM:612528",
          "UMLS:C2675859"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 5",
          "Diamond-Blackfan Anemia type 5",
          "Diamond-Blackfan anaemia caused by mutation in RPL35A",
          "Diamond-Blackfan anemia 5",
          "Diamond-Blackfan anemia caused by mutation in RPL35A",
          "RPL35A Diamond-Blackfan anaemia",
          "RPL35A Diamond-Blackfan anemia",
          "DBA5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012925"
    },
    {
      "id": 13977,
      "label": "Diamond-Blackfan anemia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111879",
          "GARD:0015568",
          "MEDGEN:419918",
          "MESH:C538442",
          "NCIT:C176915",
          "OMIM:612561",
          "UMLS:C2931850"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 6",
          "Diamond-Blackfan Anemia type 6",
          "Diamond-Blackfan anaemia caused by mutation in RPL5",
          "Diamond-Blackfan anemia 6",
          "Diamond-Blackfan anemia caused by mutation in RPL5",
          "RPL5 Diamond-Blackfan anaemia",
          "RPL5 Diamond-Blackfan anemia",
          "Aase-Smith syndrome 2",
          "DBA6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012937"
    },
    {
      "id": 13978,
      "label": "Diamond-Blackfan anemia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111878",
          "GARD:0015569",
          "MEDGEN:436451",
          "MESH:C567254",
          "NCIT:C176916",
          "OMIM:612562",
          "UMLS:C2675512"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 7",
          "Diamond-Blackfan Anemia type 7",
          "Diamond-Blackfan anaemia caused by mutation in RPL11",
          "Diamond-Blackfan anemia 7",
          "Diamond-Blackfan anemia caused by mutation in RPL11",
          "RPL11 Diamond-Blackfan anaemia",
          "RPL11 Diamond-Blackfan anemia",
          "DBA7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012938"
    },
    {
      "id": 13979,
      "label": "Diamond-Blackfan anemia 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012939"
    },
    {
      "id": 14252,
      "label": "Diamond-Blackfan anemia 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111884",
          "GARD:0015644",
          "MEDGEN:412874",
          "MESH:C567650",
          "NCIT:C176918",
          "OMIM:613308",
          "UMLS:C2750081"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 9",
          "Diamond-Blackfan Anemia type 9",
          "Diamond-Blackfan anaemia caused by mutation in RPS10",
          "Diamond-Blackfan anemia 9",
          "Diamond-Blackfan anemia caused by mutation in RPS10",
          "RPS10 Diamond-Blackfan anaemia",
          "RPS10 Diamond-Blackfan anemia",
          "DBA9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013216"
    },
    {
      "id": 14253,
      "label": "Diamond-Blackfan anemia 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111888",
          "GARD:0015645",
          "MEDGEN:412873",
          "MESH:C567649",
          "NCIT:C176919",
          "OMIM:613309",
          "UMLS:C2750080"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 10",
          "Diamond-Blackfan Anemia type 10",
          "Diamond-Blackfan anaemia caused by mutation in RPS26",
          "Diamond-Blackfan anemia 10",
          "Diamond-Blackfan anemia caused by mutation in RPS26",
          "RPS26 Diamond-Blackfan anaemia",
          "RPS26 Diamond-Blackfan anemia",
          "DBA10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013217"
    },
    {
      "id": 14974,
      "label": "Diamond-Blackfan anemia 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111892",
          "GARD:0015879",
          "MEDGEN:766956",
          "NCIT:C176920",
          "OMIM:614900",
          "UMLS:C3554042"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 11",
          "Diamond-Blackfan Anemia type 11",
          "Diamond-Blackfan anaemia caused by mutation in RPL26",
          "Diamond-Blackfan anemia 11",
          "Diamond-Blackfan anemia caused by mutation in RPL26",
          "RPL26 Diamond-Blackfan anaemia",
          "RPL26 Diamond-Blackfan anemia",
          "DBA11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013964"
    },
    {
      "id": 15251,
      "label": "Diamond-Blackfan anemia 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111882",
          "GARD:0015985",
          "MEDGEN:816218",
          "OMIM:615550",
          "UMLS:C3809888"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 12",
          "Diamond-Blackfan Anemia type 12",
          "Diamond-Blackfan anaemia caused by mutation in RPL15",
          "Diamond-Blackfan anemia 12",
          "Diamond-Blackfan anemia caused by mutation in RPL15",
          "RPL15 Diamond-Blackfan anaemia",
          "RPL15 Diamond-Blackfan anemia",
          "DBA12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014245"
    },
    {
      "id": 15396,
      "label": "Diamond-Blackfan anemia 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111889",
          "GARD:0016030",
          "MEDGEN:863078",
          "OMIM:615909",
          "UMLS:C4014641"
        ],
        "synonyms": [
          "Diamond-Blackfan Anaemia type 13",
          "Diamond-Blackfan Anemia type 13",
          "Diamond-Blackfan anaemia caused by mutation in RPS29",
          "Diamond-Blackfan anemia 13",
          "Diamond-Blackfan anemia caused by mutation in RPS29",
          "RPS29 Diamond-Blackfan anaemia",
          "RPS29 Diamond-Blackfan anemia",
          "DBA13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014394"
    },
    {
      "id": 22218,
      "label": "Diamond-Blackfan anemia 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025692",
          "MEDGEN:1824003",
          "OMIM:620072",
          "UMLS:C5774230"
        ],
        "synonyms": [
          "DBA21",
          "diamond-blackfan anaemia 21",
          "diamond-blackfan anemia 21"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031071"
    },
    {
      "id": 22348,
      "label": "Diamond-Blackfan anemia 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111896",
          "GARD:0016338",
          "MEDGEN:1681154",
          "OMIM:618310",
          "UMLS:C5193020"
        ],
        "synonyms": [
          "DBA18",
          "DIAMOND-BLACKFAN ANEMIA 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032668"
    },
    {
      "id": 22349,
      "label": "Diamond-Blackfan anemia 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16139
      ],
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}