{
  "id": 15878,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014898",
  "properties": {
    "xrefs": [
      "DOID:0111523",
      "GARD:0016183",
      "MEDGEN:934701",
      "OMIM:617069",
      "UMLS:C4310734"
    ],
    "synonyms": [
      "PEOB3",
      "TK2 autosomal recessive progressive external ophthalmoplegia",
      "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3",
      "progressive external ophthalmoplegia, autosomal recessive 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022709",
          "OMIMPS:157640"
        ],
        "synonyms": [
          "progressive external ophthalmoplegia with mtDNA deletions"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0000090"
    },
    {
      "id": 17239,
      "label": "autosomal recessive progressive external ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6902,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001191",
          "MEDGEN:340509",
          "MESH:C564926",
          "Orphanet:254886",
          "UMLS:C1850303"
        ],
        "synonyms": [
          "arPEO",
          "progressive external ophthalmoplegia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of progressive external ophthalmoplegia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016810"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions"
    },
    {
      "id": 17239,
      "label": "autosomal recessive progressive external ophthalmoplegia"
    }
  ]
}