{
  "id": 10524,
  "label": "glutathione synthetase deficiency without 5-oxoprolinuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009284",
  "properties": {
    "xrefs": [
      "DOID:0112252",
      "GARD:0017331",
      "MEDGEN:343541",
      "MESH:C565545",
      "OMIM:231900",
      "Orphanet:289849",
      "UMLS:C1856399",
      "icd11.foundation:178842925"
    ],
    "synonyms": [
      "CNSHA6",
      "GSSDE",
      "anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient",
      "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to",
      "hemolytic anaemia due to glutathione synthetase deficiency",
      "hemolytic anemia due to glutathione synthetase deficiency",
      "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "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": 18115,
      "label": "inherited glutathione synthetase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21540,
        22996
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080699",
          "GARD:0010047",
          "MEDGEN:1876682",
          "MESH:C536835",
          "NCIT:C128193",
          "Orphanet:32",
          "SCTID:234589002",
          "UMLS:C5979912"
        ],
        "synonyms": [
          "5-oxoprolinuria",
          "GSSD",
          "glutathione synthetase deficiency",
          "inborn error of glutathione synthase activity",
          "inborn glutathione synthase activity disorder",
          "inherited glutathione synthetase deficiency",
          "pyroglutamic aciduria",
          "pyroglutamicaciduria",
          "rare inborn error of glutathione synthase activity",
          "oxoprolinase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017909"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7998,
      "label": "congenital nonspherocytic hemolytic anemia"
    },
    {
      "id": 18115,
      "label": "inherited glutathione synthetase deficiency"
    },
    {
      "id": 20021,
      "label": "anemia due to enzyme disorder"
    }
  ]
}