{
  "id": 14155,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013117",
  "properties": {
    "xrefs": [
      "DOID:0111518",
      "GARD:0016501",
      "MEDGEN:413981",
      "MESH:C567768",
      "OMIM:613077",
      "UMLS:C2751319"
    ],
    "synonyms": [
      "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5",
      "PEOA5",
      "progressive external ophthalmoplegia, autosomal dominant 5"
    ],
    "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 RRM2B gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9329,
      "label": "autosomal dominant progressive external ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2722,
        2903
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016486",
          "MEDGEN:1686757",
          "MESH:C563575",
          "Orphanet:254892",
          "UMLS:C5231255"
        ],
        "synonyms": [
          "adPEO",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1",
          "progressive external ophthalmoplegia, autosomal dominant",
          "PEOA1",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of progressive external ophthalmoplegia."
      },
      "child_count": 10,
      "reference_id": "MONDO:0008003"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9329,
      "label": "autosomal dominant progressive external ophthalmoplegia"
    }
  ]
}