{
  "id": 13824,
  "label": "autosomal recessive ataxia due to ubiquinone deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012784",
  "properties": {
    "xrefs": [
      "DOID:0070241",
      "GARD:0010294",
      "MEDGEN:436985",
      "MESH:C567436",
      "OMIM:612016",
      "Orphanet:139485",
      "SCTID:725394006",
      "UMLS:C2677589"
    ],
    "synonyms": [
      "ARCA2",
      "SCAR9",
      "autosomal recessive ataxia due to coenzyme Q10 deficiency",
      "autosomal recessive cerebellar ataxia type 2",
      "autosomal recessive spinocerebellar ataxia type 9",
      "coenzyme Q10 deficiency, primary, type 4",
      "COQ10D4",
      "autosomal recessive spinocerebellar ataxia 9",
      "coenzyme Q10 deficiency, primary, 4",
      "spinocerebellar ataxia, autosomal recessive 9"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050950",
          "GARD:0018718",
          "MEDGEN:1843058",
          "OMIMPS:213200",
          "Orphanet:1172",
          "UMLS:C5575375"
        ],
        "synonyms": [
          "ARCA",
          "arca",
          "cerebellar ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015244"
    },
    {
      "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": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    },
    {
      "id": 18296,
      "label": "coenzyme Q10 deficiency"
    }
  ]
}