{
  "id": 10572,
  "label": "non-spherocytic hemolytic anemia due to hexokinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009340",
  "properties": {
    "xrefs": [
      "DOID:0051006",
      "GARD:0003672",
      "MEDGEN:461693",
      "MESH:C562995",
      "OMIM:235700",
      "Orphanet:90031",
      "UMLS:C3150343"
    ],
    "synonyms": [
      "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient",
      "hemolytic anaemia due to hexokinase deficiency",
      "hemolytic anemia due to hexokinase deficiency",
      "hemolytic anemia, nonspherocytic, due to hexokinase deficiency",
      "nonspherocytic hemolytic anaemia due to hexokinase deficiency",
      "nonspherocytic hemolytic anemia due to hexokinase deficiency",
      "hexokinase deficiency hemolytic anaemia",
      "hexokinase deficiency hemolytic anemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe 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"
    }
  ]
}