{
  "id": 3901,
  "label": "inherited aplastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001713",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16610,
      "label": "aplastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12449",
          "GARD:0020234",
          "ICD9:284.8",
          "ICD9:284.9",
          "MEDGEN:8063",
          "MESH:D000741",
          "NANDO:1200295",
          "NANDO:1200301",
          "NANDO:2100201",
          "NANDO:2200693",
          "NCIT:C2870",
          "OMIM:609135",
          "Orphanet:182040",
          "SCTID:306058006",
          "UMLS:C0002874"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015909"
    }
  ],
  "children": [
    {
      "id": 9963,
      "label": "WT limb-blood syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000039",
          "MEDGEN:231231",
          "MESH:C536751",
          "OMIM:194350",
          "Orphanet:3466",
          "SCTID:719019000",
          "UMLS:C1327917",
          "icd11.foundation:1407849410"
        ],
        "synonyms": [
          "WT limb-blood syndrome",
          "WT limb blood syndrome",
          "WTsyndrome",
          "radial-ulnar hypoplasia with bone marrow failure and/or leukaemia",
          "radial-ulnar hypoplasia with bone marrow failure and/or leukemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008688"
    },
    {
      "id": 14864,
      "label": "autosomal dominant aplasia and myelodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2750,
        3901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017420",
          "MEDGEN:814883",
          "NANDO:1200301",
          "OMIM:614675",
          "Orphanet:314399",
          "UMLS:C3808553"
        ],
        "synonyms": [
          "autosomal dominant aplastic anaemia and myelodysplasia",
          "autosomal dominant aplastic anemia and myelodysplasia",
          "bone marrow failure syndrome type 1",
          "BMFS1",
          "bone marrow failure syndrome 1"
        ],
        "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:0013851"
    },
    {
      "id": 15320,
      "label": "pancytopenia-developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2750,
        3901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017655",
          "MEDGEN:816680",
          "OMIM:615715",
          "Orphanet:401764",
          "UMLS:C3810350"
        ],
        "synonyms": [
          "Trilineage bone marrow failure-developmental delay syndrome",
          "bone marrow failure syndrome type 2",
          "pancytopenia-developmental delay syndrome",
          "BMFS2",
          "bone marrow failure syndrome 2"
        ],
        "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:0014317"
    },
    {
      "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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16610,
      "label": "aplastic anemia"
    }
  ]
}