{
  "id": 4394,
  "label": "anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002280",
  "properties": {
    "xrefs": [
      "DOID:2355",
      "HP:0001903",
      "ICD9:285.8",
      "ICD9:285.9",
      "MEDGEN:1526",
      "MESH:D000740",
      "NCIT:C2869",
      "SCTID:271737000",
      "UMLS:C0002871"
    ],
    "synonyms": [
      "anaemia (disease)",
      "anemia",
      "anemia (disease)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 19,
  "parents": [
    {
      "id": 7217,
      "label": "hematologic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:74",
          "EFO:0005803",
          "GTR:AN1320635",
          "ICD10CM:D50-D89",
          "ICD9:280-289",
          "ICD9:289.8",
          "ICD9:289.9",
          "MEDGEN:5483",
          "MESH:D006402",
          "NANDO:1100006",
          "NANDO:2100175",
          "NCIT:C26323",
          "Orphanet:97992",
          "SCTID:414022008",
          "UMLS:C0018939"
        ],
        "synonyms": [
          "blood disease",
          "blood disorder",
          "disease of hematopoietic system",
          "disease of the blood and blood-forming organs",
          "disease or disorder of haematopoietic system",
          "disease or disorder of hematopoietic system",
          "disorder of haematopoietic system",
          "disorder of hematopoietic system",
          "haematological disease",
          "haematological disorder",
          "haematological system disease",
          "haematopoietic disease",
          "haematopoietic system disease or disorder",
          "hematologic and lymphocytic disorder",
          "hematologic disorder",
          "hematological disease",
          "hematological disorder",
          "hematological system disease",
          "hematopoietic disease",
          "hematopoietic system disease",
          "hematopoietic system disease or disorder",
          "rare hematologic disease",
          "haematological disorders and malignancies",
          "hematological disorders and malignancies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving the hematopoietic system."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005570"
    }
  ],
  "children": [
    {
      "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": 3480,
      "label": "neonatal anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11244",
          "MEDGEN:1530",
          "MESH:D000751",
          "SCTID:234350007",
          "UMLS:C0002891"
        ],
        "synonyms": [
          "anemia neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001240"
    },
    {
      "id": 3485,
      "label": "microcytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11252",
          "HP:0001935",
          "MEDGEN:1673948",
          "NCIT:C35141",
          "SCTID:234349007",
          "UMLS:C5194182",
          "icd11.foundation:1380406043"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia in which the red blood cell volume is decreased."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001245"
    },
    {
      "id": 3581,
      "label": "hypochromic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11759",
          "HP:0001931",
          "MEDGEN:8065",
          "NCIT:C34380",
          "SCTID:44452003",
          "UMLS:C0002884"
        ],
        "synonyms": [
          "anaemia hypochromic",
          "anemia hypochromic",
          "hypochromic anaemia (disease)",
          "hypochromic anemia",
          "hypochromic anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency."
      },
      "child_count": 1,
      "reference_id": "MONDO:0001357"
    },
    {
      "id": 3736,
      "label": "pancytopenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12450",
          "ICD10CM:D61.81",
          "ICD9:284.1",
          "ICD9:284.89",
          "MEDGEN:18281",
          "MESH:D010198",
          "NCIT:C34889",
          "SCTID:127034005",
          "UMLS:C0030312"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A finding of low numbers of red and white blood cells and platelets in the peripheral blood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001529"
    },
    {
      "id": 3835,
      "label": "deficiency anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13121",
          "GARD:0022980",
          "ICD9:281.8",
          "ICD9:281.9",
          "MEDGEN:508256",
          "SCTID:267513007",
          "UMLS:C0041782"
        ],
        "synonyms": [
          "deficiency anemias",
          "unspecified deficiency anaemia",
          "unspecified deficiency anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0001639"
    },
    {
      "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": 4395,
      "label": "macrocytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2361",
          "HP:0001972",
          "MEDGEN:1920",
          "MESH:D000748",
          "NCIT:C34381",
          "SCTID:83414005",
          "UMLS:C0002886"
        ],
        "synonyms": [
          "D22S676",
          "D22S750",
          "anaemia macrocytic",
          "anemia macrocytic",
          "macrocytic Anemia",
          "macrocytic anaemia (disease)",
          "macrocytic anaemia of unspecified cause",
          "macrocytic anemia",
          "macrocytic anemia (disease)",
          "macrocytic anemia of unspecified cause"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia that is characterized by increased red blood cell volume."
      },
      "child_count": 2,
      "reference_id": "MONDO:0002281"
    },
    {
      "id": 5966,
      "label": "normocytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:720",
          "ICD9:285.8",
          "MEDGEN:39310",
          "NCIT:C35142",
          "SCTID:300980002",
          "UMLS:C0085577"
        ],
        "synonyms": [
          "anaemia normocytic",
          "anemia normocytic",
          "normocytic Anaemia",
          "normocytic Anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia in which the red blood cell volume is normal."
      },
      "child_count": 1,
      "reference_id": "MONDO:0004139"
    },
    {
      "id": 16106,
      "label": "sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8955",
          "GARD:0018714",
          "ICD9:285.0",
          "MEDGEN:8067",
          "MESH:D000756",
          "MedDRA:10040661",
          "NANDO:2100179",
          "NANDO:2200616",
          "NCIT:C36078",
          "Orphanet:1047",
          "SCTID:41841004",
          "UMLS:C0002896"
        ],
        "synonyms": [
          "anaemia sideroblastic",
          "anemia sideroblastic",
          "sideroblastic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015194"
    },
    {
      "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"
    },
    {
      "id": 16816,
      "label": "hemoglobin C disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2859",
          "GARD:0027866",
          "ICD9:282.7",
          "MEDGEN:6789",
          "MESH:C531699",
          "MESH:D006445",
          "MedDRA:10018883",
          "NANDO:2200635",
          "NCIT:C34675",
          "Orphanet:2132",
          "SCTID:51053007",
          "UMLS:C0019021"
        ],
        "synonyms": [
          "Hb C disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016242"
    },
    {
      "id": 16817,
      "label": "hemoglobin E disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5379",
          "GARD:0002641",
          "ICD9:282.7",
          "MEDGEN:68658",
          "MedDRA:10053215",
          "NCIT:C35287",
          "Orphanet:2133",
          "SCTID:25065001",
          "UMLS:C0238159",
          "icd11.foundation:1898135714"
        ],
        "synonyms": [
          "hemoglobin E disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016243"
    },
    {
      "id": 17501,
      "label": "beta-thalassemia and related diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021023",
          "MEDGEN:1826095",
          "Orphanet:275749",
          "UMLS:C5680748"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017145"
    },
    {
      "id": 17576,
      "label": "hemoglobinopathy Toms River",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4394,
        14541,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017297",
          "MEDGEN:1683555",
          "Orphanet:280615",
          "UMLS:C5190689"
        ],
        "synonyms": [
          "transient neonatal cyanosis and anaemia due to Toms River Haemoglobin",
          "transient neonatal cyanosis and anemia due to Toms River Hemoglobin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017238"
    },
    {
      "id": 18885,
      "label": "hereditary methemoglobinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3365,
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002659",
          "ICD10CM:D74.0",
          "MEDGEN:473013",
          "MESH:C580280",
          "NCIT:C98898",
          "Orphanet:621",
          "SCTID:267550008",
          "UMLS:C0272087",
          "icd11.foundation:586921197"
        ],
        "synonyms": [
          "autosomal recessive methemoglobinemia",
          "congenital methemoglobinemia",
          "hereditary methemoglobinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018963"
    },
    {
      "id": 19347,
      "label": "hemoglobin D disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5378",
          "GARD:0019103",
          "ICD9:282.7",
          "MEDGEN:124416",
          "MedDRA:10055019",
          "NCIT:C35344",
          "Orphanet:90039",
          "SCTID:66729008",
          "UMLS:C0272080",
          "icd11.foundation:1508363690"
        ],
        "synonyms": [
          "hemoglobin D disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019537"
    },
    {
      "id": 20021,
      "label": "anemia due to enzyme disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025177",
          "MEDGEN:105411",
          "NCIT:C35472",
          "UMLS:C0494226"
        ],
        "synonyms": [
          "anemia due to enzyme disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any form of anemia that results from the absence of, or the defective action of, any enzyme."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020584"
    },
    {
      "id": 20131,
      "label": "anemia due to chronic disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:285.29",
          "MEDGEN:507442",
          "NCIT:C35659",
          "SCTID:234347009",
          "UMLS:C0002873"
        ],
        "synonyms": [
          "anaemia of chronic disease",
          "anaemia of chronic illness",
          "anaemia of chronic inflammation",
          "anemia due to chronic disorder",
          "anemia of chronic disease",
          "anemia of chronic illness",
          "anemia of chronic inflammation",
          "Secondary anaemia",
          "Secondary anemia",
          "anaemia due to Chronic Disorder",
          "anaemia of chronic disorder",
          "anaemia of systemic disease",
          "anemia due to Chronic Disorder",
          "anemia of chronic disorder",
          "anemia of systemic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia due to a disorder that is persistent or long-standing in nature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020725"
    }
  ],
  "roots": [
    {
      "id": 7217,
      "label": "hematologic disorder"
    }
  ]
}