{
  "id": 25702,
  "label": "COX deficiency, benign infantile mitochondrial myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0957524",
  "properties": {
    "xrefs": [
      "DOID:0081377",
      "GARD:0026855"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 22753,
      "label": "mitochondrial complex IV deficiency, nuclear-type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2715
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3762",
          "GARD:0000048",
          "MEDGEN:1830397",
          "MESH:D030401",
          "NCIT:C98910",
          "OMIMPS:220110",
          "Orphanet:254905",
          "SCTID:67434000",
          "UMLS:C5779825"
        ],
        "synonyms": [
          "Cytochrome C Oxidase Deficiency",
          "cytochrome-C oxidase deficiency",
          "cytochrome-c oxidase deficiency disease",
          "isolated COX deficiency",
          "isolated mitochondrial respiratory chain complex IV deficiency",
          "mitochondrial complex IV deficiency",
          "mitochondrial respiratory complex IV deficiency",
          "COX deficiency",
          "Cox deficiency",
          "complex 4 mitochondrial respiratory chain deficiency",
          "complex IV deficiency",
          "deficiency of mitochondrial respiratory chain complex4",
          "isolated cytochrome C oxidase deficiency",
          "mitochondrial complex 4 deficiency"
        ],
        "definition": "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis."
      },
      "child_count": 22,
      "reference_id": "MONDO:0033885"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 22753,
      "label": "mitochondrial complex IV deficiency, nuclear-type"
    }
  ]
}