{
  "id": 21499,
  "label": "D-2-hydroxyglutaric aciduria 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024554",
  "properties": {
    "xrefs": [
      "DOID:0111351",
      "GARD:0025429",
      "MEDGEN:463405",
      "OMIM:600721",
      "UMLS:C3152055"
    ],
    "synonyms": [
      "D-2-hydroxyglutaric aciduria",
      "D-2-hydroxyglutaric aciduria 1",
      "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH",
      "D2HGDH D-2-hydroxyglutaric aciduria",
      "D2HGA1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12057,
      "label": "D-2-hydroxyglutaric aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16643
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050575",
          "GARD:0005661",
          "MEDGEN:322192",
          "OMIMPS:600721",
          "Orphanet:79315",
          "SCTID:237960000",
          "UMLS:C1833429",
          "icd11.foundation:1170122566"
        ],
        "synonyms": [
          "D-2-HGA",
          "D-2-hydroxyglutaric acidemia",
          "D-2-hydroxyglutaric aciduria type 1",
          "D-2-hydroxyglutaric aciduria 1",
          "D2HA",
          "D2HGA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010924"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12057,
      "label": "D-2-hydroxyglutaric aciduria"
    }
  ]
}