{
  "id": 11148,
  "label": "glutathione synthetase deficiency with 5-oxoprolinuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009947",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18115,
      "label": "inherited glutathione synthetase deficiency"
    }
  ]
}