{
  "id": 11151,
  "label": "pyruvate kinase deficiency of red cells",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009950",
  "properties": {
    "xrefs": [
      "DOID:0111077",
      "GARD:0007514",
      "MEDGEN:473069",
      "MESH:C564858",
      "NANDO:2200628",
      "NCIT:C99037",
      "NORD:1642",
      "OMIM:266200",
      "Orphanet:766",
      "SCTID:124331002",
      "UMLS:C0340968"
    ],
    "synonyms": [
      "PK deficiency",
      "Pyruvate Kinase Deficiency",
      "anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient",
      "hemolytic anaemia due to pyruvate Kinase deficiency",
      "hemolytic anaemia due to red cell pyruvate kinase deficiency",
      "hemolytic anemia due to pyruvate Kinase deficiency",
      "hemolytic anemia due to red cell pyruvate kinase deficiency",
      "pyruvate kinase deficiency",
      "pyruvate kinase deficiency of erythrocyte",
      "pyruvate kinase deficiency of erythrocytes",
      "pyruvate kinase deficiency of red cells"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 17928,
      "label": "disorder of glycolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17229,
        19082,
        19115
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021306",
          "MEDGEN:1825948",
          "Orphanet:308459",
          "UMLS:C5681073"
        ]
      },
      "child_count": 48,
      "reference_id": "MONDO:0017688"
    },
    {
      "id": 20022,
      "label": "anemia due to erythrocyte enzyme disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025178",
          "MEDGEN:1383362",
          "NCIT:C131630",
          "UMLS:C4329304"
        ],
        "synonyms": [
          "anemia due to erythrocyte 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 involved in erythropoiesis."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020585"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7998,
      "label": "congenital nonspherocytic hemolytic anemia"
    },
    {
      "id": 17928,
      "label": "disorder of glycolysis"
    },
    {
      "id": 20022,
      "label": "anemia due to erythrocyte enzyme disorder"
    }
  ]
}