{
  "id": 16643,
  "label": "2-hydroxyglutaric aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016001",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10602,
      "label": "L-2-hydroxyglutaric aciduria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16643
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009370"
    },
    {
      "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"
    },
    {
      "id": 15081,
      "label": "D,L-2-hydroxyglutaric aciduria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16643
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014072"
    }
  ],
  "roots": [
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}