{
  "id": 10032,
  "label": "oxoglutaricaciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008759",
  "properties": {
    "xrefs": [
      "DOID:0081326",
      "GARD:0000617",
      "MEDGEN:414553",
      "MESH:C536582",
      "OMIM:203740",
      "Orphanet:31",
      "SCTID:733630004",
      "UMLS:C2752074"
    ],
    "synonyms": [
      "Alpha-ketoglutarate dehydrogenase deficiency",
      "oxoglutarate dehydrogenase deficiency",
      "2 alpha ketoglutarate dehydrogenase deficiency",
      "2-ketoglutarate dehydrogenase deficiency",
      "ALPHA-ketoglutarate dehydrogenase deficiency",
      "Alpha KGD deficiency",
      "Alpha-Kgd deficiency",
      "Oxoglutaric aciduria"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19107,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:700",
          "GARD:0018887",
          "MEDGEN:1778113",
          "MESH:D028361",
          "NANDO:1200173",
          "NANDO:2100163",
          "Orphanet:68380",
          "UMLS:C1456275"
        ],
        "synonyms": [
          "mitochondrial disease",
          "mitochondrial genetic disorders",
          "mitochondrial metabolism disease"
        ],
        "definition": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
      },
      "child_count": 42,
      "reference_id": "MONDO:0004069"
    },
    {
      "id": 17230,
      "label": "tricarboxylic acid cycle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020753",
          "MEDGEN:1843282",
          "Orphanet:254749",
          "UMLS:C5679646"
        ],
        "synonyms": [
          "Krebs cycle disorder",
          "TCA cycle disorder",
          "citric acid cycle disorder",
          "inborn error of tricarboxylic acid cycle",
          "inborn tricarboxylic acid cycle disorder",
          "rare inborn error of tricarboxylic acid cycle"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016790"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 17230,
      "label": "tricarboxylic acid cycle disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}