{
  "id": 10602,
  "label": "L-2-hydroxyglutaric aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009370",
  "properties": {
    "xrefs": [
      "DOID:0050574",
      "GARD:0010472",
      "MEDGEN:341029",
      "OMIM:236792",
      "Orphanet:79314",
      "SCTID:237961001",
      "UMLS:C1855995",
      "icd11.foundation:562958433"
    ],
    "synonyms": [
      "L-2-HGA",
      "L-2-hydroxyglutaric acidemia",
      "L-2-hydroxyglutaric aciduria",
      "L2HGA"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16643,
      "label": "2-hydroxyglutaric aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050573",
          "GARD:0010761",
          "ICD9:270.8",
          "MEDGEN:412535",
          "MESH:C535306",
          "NCIT:C128187",
          "Orphanet:19",
          "SCTID:698870008",
          "UMLS:C2746066"
        ],
        "synonyms": [
          "2-hydroxyglutaric acidemia",
          "2-hydroxyglutaric aciduria",
          "2-HGA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016001"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16643,
      "label": "2-hydroxyglutaric aciduria"
    }
  ]
}