{
  "id": 13300,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012241",
  "properties": {
    "xrefs": [
      "DOID:0111520",
      "GARD:0016499",
      "MEDGEN:373087",
      "MESH:C563747",
      "OMIM:609286",
      "UMLS:C1836439"
    ],
    "synonyms": [
      "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3",
      "PEOA3",
      "progressive external ophthalmoplegia, autosomal dominant 3"
    ],
    "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 TWNK 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"
    }
  ]
}