{
  "id": 10521,
  "label": "glutaryl-CoA dehydrogenase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009281",
  "properties": {
    "xrefs": [
      "DOID:0111254",
      "GARD:0006522",
      "MEDGEN:124337",
      "MESH:C536833",
      "NANDO:1200800",
      "NANDO:2200501",
      "NCIT:C99101",
      "OMIM:231670",
      "Orphanet:25",
      "SCTID:76175005",
      "UMLS:C0268595"
    ],
    "synonyms": [
      "GA1",
      "GCDHD",
      "glutaric acidemia type 1",
      "glutaric aciduria type 1",
      "glutaric aciduria, type 1",
      "glutaricaciduria, type I",
      "glutaryl-CoA dehydrogenase deficiency",
      "glutaryl-coenzyme A dehydrogenase deficiency",
      "Ga 1",
      "glutaric acidemia 1",
      "glutaric acidemia I",
      "glutaric acidemia type I",
      "glutaric acidemia, type 1",
      "glutaric aciduria 1",
      "glutaric aciduria type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2735,
      "label": "glutaric aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0003150",
          "HP:0003530",
          "ICD9:270.8",
          "MEDGEN:75695",
          "SCTID:28987007",
          "UMLS:C0268594"
        ],
        "synonyms": [
          "glutaric acidemia",
          "glutaric aciduria",
          "glutaric aciduria (disease)"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000129"
    },
    {
      "id": 3084,
      "label": "inborn organic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060159",
          "GARD:0009433",
          "ICD9:277.89",
          "MEDGEN:66037",
          "NCIT:C101334",
          "Orphanet:289899",
          "UMLS:C0241775",
          "icd11.foundation:1921636230"
        ],
        "synonyms": [
          "disorder of organic acid metabolism",
          "organic acid metabolism disorder",
          "inborn error of organic acid metabolic process",
          "inborn organic acid metabolic process disorder",
          "organic acidemia",
          "organic aciduria",
          "rare inborn error of organic acid metabolic process",
          "inherited organic acidemia"
        ],
        "definition": "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage."
      },
      "child_count": 7,
      "reference_id": "MONDO:0000688"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2735,
      "label": "glutaric aciduria"
    },
    {
      "id": 3084,
      "label": "inborn organic aciduria"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}