{
  "id": 3000,
  "label": "congenital anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000577",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 4394,
      "label": "anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 19,
      "reference_id": "MONDO:0002280"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    }
  ],
  "children": [
    {
      "id": 3159,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        10856,
        16918,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080099",
          "GARD:0003885",
          "MEDGEN:373888",
          "MESH:C536101",
          "OMIMPS:600462",
          "Orphanet:2598",
          "SCTID:724138007",
          "UMLS:C1838103",
          "icd11.foundation:678852156"
        ],
        "synonyms": [
          "MLASA",
          "MSA",
          "mitochondrial myopathy and sideroblastic anaemia",
          "mitochondrial myopathy and sideroblastic anemia",
          "myopathy, lactic acidosis and sideroblastic anaemia",
          "myopathy, lactic acidosis and sideroblastic anemia",
          "myopathy, lactic acidosis, and siderblastic anaemia",
          "myopathy, lactic acidosis, and siderblastic anemia",
          "myopathy with lactic acidosis and sideroblastic anaemia",
          "myopathy with lactic acidosis and sideroblastic anemia",
          "sideroblastic anaemia and mitochondrial myopathy",
          "sideroblastic anemia and mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000863"
    },
    {
      "id": 7998,
      "label": "congenital nonspherocytic hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        5573,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2861",
          "EFO:1000641",
          "GARD:0024433",
          "ICD9:282.3",
          "MEDGEN:284",
          "MESH:D000746",
          "OMIMPS:300908",
          "SCTID:301317008",
          "UMLS:C0002882"
        ],
        "synonyms": [
          "anemia, congenital, nonspherocytic hemolytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase."
      },
      "child_count": 30,
      "reference_id": "MONDO:0006506"
    },
    {
      "id": 8522,
      "label": "congenital dyserythropoietic anemia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3000,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111399",
          "GARD:0002002",
          "ICD9:285.8",
          "MEDGEN:1801596",
          "NANDO:1200888",
          "OMIM:105600",
          "Orphanet:98870",
          "SCTID:26409005",
          "UMLS:C5676874"
        ],
        "synonyms": [
          "CDA III",
          "CDA type 3",
          "CDA type III",
          "congenital dyserythropoietic anemia type 3",
          "dyserythropoietic anemia, congenital, type III",
          "CDA 3",
          "CDAN3",
          "Erythroreticulosis, hereditary benign",
          "anaemia with multinucleated erythroblasts",
          "anemia with multinucleated erythroblasts",
          "anemia, congenital dyserythropoietic, type III",
          "dyserythropoietic Anemia, congenital, type 3",
          "dyserythropoietic anemia, congenital type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007109"
    },
    {
      "id": 10378,
      "label": "congenital dyserythropoietic anemia type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3000,
        17978,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111401",
          "GARD:0002001",
          "ICD9:285.8",
          "MEDGEN:266296",
          "NANDO:1200887",
          "OMIM:224100",
          "Orphanet:98873",
          "SCTID:68870007",
          "UMLS:C1306589"
        ],
        "synonyms": [
          "CDA II",
          "CDA type 2",
          "CDA type II",
          "SEC23B-CDG",
          "congenital dyserythropoietic anemia type 2",
          "dyserythropoietic anemia, congenital, type II",
          "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)",
          "CDAN2",
          "Cda 2",
          "anemia, congenital dyserythropoietic, type 2",
          "anemia, congenital dyserythropoietic, type II",
          "anemia, dyserythropoietic, congenital type 2",
          "dyserythropoietic Anemia, congenital, type 2",
          "dyserythropoietic Anemia, hempas type",
          "hempas anaemia",
          "hempas anemia",
          "hereditary erythroblastic multinuclearity with Positive acidified-serum test"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009134"
    },
    {
      "id": 14388,
      "label": "congenital dyserythropoietic anemia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3000,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111400",
          "GARD:0017344",
          "MEDGEN:462276",
          "OMIM:613673",
          "Orphanet:293825",
          "SCTID:719453009",
          "UMLS:C3150926"
        ],
        "synonyms": [
          "CDA IV",
          "CDA due to KLF1 mutation",
          "CDA type 4",
          "CDA type IV",
          "CDAN4",
          "congenital dyserythropoietic anemia due to KLF1 mutation",
          "congenital dyserythropoietic anemia type 4",
          "dyserythropoietic anemia, congenital, type IV",
          "CDA, type 4",
          "anemia, congenital dyserythropoietic, type 4",
          "anemia, congenital dyserythropoietic, type IV"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013355"
    },
    {
      "id": 15103,
      "label": "severe congenital hypochromic anemia with ringed sideroblasts",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2723,
        3000,
        17107,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017364",
          "MEDGEN:815250",
          "OMIM:615234",
          "Orphanet:300298",
          "SCTID:725463007",
          "UMLS:C3808920"
        ],
        "synonyms": [
          "anemia, hypochromic microcytic, with iron overload type 2",
          "severe congenital hypochromic sideroblastic anaemia",
          "severe congenital hypochromic sideroblastic anemia",
          "AHMIO2",
          "anemia, hypochromic microcytic, with iron overload 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014094"
    },
    {
      "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"
    },
    {
      "id": 19805,
      "label": "congenital dyserythropoietic anemia type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111396",
          "GARD:0002000",
          "MEDGEN:82891",
          "NANDO:1200886",
          "Orphanet:98869",
          "SCTID:59548005",
          "UMLS:C0271933"
        ],
        "synonyms": [
          "CDA I",
          "CDA type 1",
          "CDA type I",
          "congenital dyserythropoietic anemia type 1",
          "anemia, dyserythropoietic, congenital type 1",
          "dyserythropoietic anemia, congenital type 1",
          "type I congenital dyserythropoietic anaemia",
          "type I congenital dyserythropoietic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020337"
    }
  ],
  "roots": [
    {
      "id": 4394,
      "label": "anemia"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    }
  ]
}