{
  "id": 18115,
  "label": "inherited glutathione synthetase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017909",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 21540,
      "label": "defective phagocytic cell engulfment",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:585050",
          "SCTID:234585008",
          "UMLS:C0398742"
        ],
        "synonyms": [
          "defective phagocytic cell killing"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0024626"
    },
    {
      "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": [
    {
      "id": 10524,
      "label": "glutathione synthetase deficiency without 5-oxoprolinuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        18115,
        20021
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009284"
    },
    {
      "id": 11148,
      "label": "glutathione synthetase deficiency with 5-oxoprolinuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18115
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081034",
          "GARD:0017330",
          "ICD9:270.8",
          "MEDGEN:97988",
          "OMIM:266130",
          "Orphanet:289846",
          "SCTID:39112005",
          "UMLS:C0398746",
          "icd11.foundation:2005562438"
        ],
        "synonyms": [
          "5-oxoprolinuria",
          "GSSD",
          "glutathione synthetase deficiency",
          "pyroglutamic aciduria"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009947"
    }
  ],
  "roots": [
    {
      "id": 21540,
      "label": "defective phagocytic cell engulfment"
    },
    {
      "id": 22996,
      "label": "inherited glutathione metabolism disease"
    }
  ]
}