{
  "id": 10993,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009783",
  "properties": {
    "xrefs": [
      "DOID:0111522",
      "GARD:0015215",
      "MEDGEN:897191",
      "OMIM:258450",
      "UMLS:C4225153"
    ],
    "synonyms": [
      "POLG autosomal recessive progressive external ophthalmoplegia",
      "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1",
      "PEOB1",
      "arPEO",
      "autosomal recessive progressive external ophthalmoplegia",
      "cerebellar ataxia infantile with progressive external ophthalmoplegia",
      "progressive external ophthalmoplegia with cerebellar ataxia infantile",
      "progressive external ophthalmoplegia, autosomal recessive 1"
    ],
    "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 POLG 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"
    }
  ]
}