{
  "id": 12910,
  "label": "coenzyme Q10 deficiency, primary, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011829",
  "properties": {
    "xrefs": [
      "DOID:0070238",
      "GARD:0018378",
      "MEDGEN:764868",
      "OMIM:607426",
      "UMLS:C3551954"
    ],
    "synonyms": [
      "COQ2 coenzyme Q10 deficiency",
      "coenzyme Q10 deficiency caused by mutation in COQ2",
      "coenzyme Q10 deficiency, primary, 1",
      "coenzyme Q10 deficiency, primary, type 1",
      "COQ10D1",
      "CoQ deficiency 1",
      "Coq10 deficiency, primary, 1",
      "coenzyme Q deficiency 1",
      "ubiquinone deficiency 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18296,
      "label": "coenzyme Q10 deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050730",
          "GARD:0010423",
          "MEDGEN:334528",
          "MESH:C564403",
          "NCIT:C142083",
          "OMIMPS:607426",
          "Orphanet:35656",
          "SCTID:724575009",
          "UMLS:C1843920",
          "icd11.foundation:1251664337"
        ],
        "synonyms": [
          "CoQ10 deficiency",
          "coenzyme Q10 deficiency disease",
          "coenzyme Q10 deficiency, primary",
          "CoQ10 deficiency, primary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency."
      },
      "child_count": 20,
      "reference_id": "MONDO:0018151"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18296,
      "label": "coenzyme Q10 deficiency"
    }
  ]
}