{
  "id": 15651,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014656",
  "properties": {
    "xrefs": [
      "DOID:0111515",
      "GARD:0018450",
      "MEDGEN:901897",
      "OMIM:616479",
      "UMLS:C4225312"
    ],
    "synonyms": [
      "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
      "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2",
      "PEOB2",
      "progressive external ophthalmoplegia, autosomal recessive 2"
    ],
    "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 RNASEH1 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": 18177,
      "label": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10856,
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017503",
          "MEDGEN:1393682",
          "Orphanet:329336",
          "SCTID:725464001",
          "UMLS:C4511138"
        ],
        "synonyms": [
          "adult-onset CPEO with mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018002"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions"
    },
    {
      "id": 18177,
      "label": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
    }
  ]
}