{
  "id": 18177,
  "label": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018002",
  "properties": {
    "xrefs": [
      "GARD:0017503",
      "MEDGEN:1393682",
      "Orphanet:329336",
      "SCTID:725464001",
      "UMLS:C4511138"
    ],
    "synonyms": [
      "adult-onset CPEO with mitochondrial myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    }
  ],
  "children": [
    {
      "id": 15651,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722,
        18177
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111515",
          "GARD:0018450",
          "MEDGEN:901897",
          "OMIM:616479",
          "UMLS:C4225312"
        ],
        "synonyms": [
          "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2",
          "PEOB2",
          "progressive external ophthalmoplegia, autosomal recessive 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014656"
    }
  ],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    }
  ]
}