{
  "id": 15081,
  "label": "D,L-2-hydroxyglutaric aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014072",
  "properties": {
    "xrefs": [
      "DOID:0111619",
      "GARD:0017540",
      "ICD9:270.8",
      "MEDGEN:1802316",
      "OMIM:615182",
      "Orphanet:356978",
      "SCTID:713401006",
      "UMLS:C5574940"
    ],
    "synonyms": [
      "D,L-2-HGA",
      "D,L-2-hydroxyglutaric acidemia",
      "D,L-2-hydroxyglutaric aciduria",
      "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia",
      "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria",
      "D2L2AD",
      "combined D-2- and L-2-hydroxyglutaric aciduria"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites."
  },
  "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"
    }
  ]
}