{
  "id": 21474,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024528",
  "properties": {
    "xrefs": [
      "DOID:0111521",
      "GARD:0013174",
      "MEDGEN:371919",
      "OMIM:157640",
      "UMLS:C1834846"
    ],
    "synonyms": [
      "PEOA1",
      "POLG autosomal dominant progressive external ophthalmoplegia",
      "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
      "progressive external ophthalmoplegia, autosomal dominant 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG 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"
    }
  ]
}