{
  "id": 10500,
  "label": "gamma-glutamylcysteine synthetase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009259",
  "properties": {
    "xrefs": [
      "DOID:0111681",
      "GARD:0016631",
      "ICD9:270.8",
      "MEDGEN:347272",
      "MESH:C565557",
      "OMIM:230450",
      "Orphanet:33574",
      "SCTID:36799008",
      "UMLS:C1856603"
    ],
    "synonyms": [
      "anemia, congenital, nonspherocytic hemolytic, 7",
      "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to",
      "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to",
      "glutamate-cysteine ligase deficiency",
      "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency",
      "inborn error of glutamate-cysteine ligase activity",
      "inborn glutamate-cysteine ligase activity disorder",
      "rare inborn error of glutamate-cysteine ligase activity"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported."
  },
  "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": 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": 22996,
      "label": "inherited glutathione metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19105,
        23664,
        24199
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025825",
          "MEDGEN:541346",
          "SCTID:72262000",
          "UMLS:C0268518"
        ],
        "synonyms": [
          "disorder of glutathione metabolism",
          "glutathione metabolism disorder, inherited",
          "inborn error of glutathione metabolic process",
          "inborn error of glutathione metabolism",
          "inborn glutathione metabolic process disorder",
          "rare inborn error of glutathione metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process."
      },
      "child_count": 18,
      "reference_id": "MONDO:0040566"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7998,
      "label": "congenital nonspherocytic hemolytic anemia"
    },
    {
      "id": 20021,
      "label": "anemia due to enzyme disorder"
    },
    {
      "id": 22996,
      "label": "inherited glutathione metabolism disease"
    }
  ]
}