{
  "id": 15662,
  "label": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014667",
  "properties": {
    "xrefs": [
      "DOID:0080359",
      "GARD:0018572",
      "MEDGEN:903495",
      "OMIM:616500",
      "UMLS:C4225154"
    ],
    "synonyms": [
      "COA5 fatal infantile encephalocardiomyopathy",
      "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3",
      "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
      "fatal infantile encephalocardiomyopathy caused by mutation in COA5",
      "mitochondrial complex IV, deficiency, nuclear type 9",
      "CEMCOX3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16322,
      "label": "fatal infantile encephalocardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6933,
        10856,
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050713",
          "GARD:0016569",
          "MEDGEN:903874",
          "Orphanet:1561",
          "SCTID:718124006",
          "UMLS:C4273730"
        ],
        "synonyms": [
          "fatal infantile COX deficiency",
          "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency",
          "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency",
          "fatal infantile cytochrome C oxidase deficiency",
          "fatal infantile encephalomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015487"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16322,
      "label": "fatal infantile encephalocardiomyopathy"
    }
  ]
}