{
  "id": 2722,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000090",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 6902,
      "label": "progressive external ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        5353,
        10856,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12558",
          "EFO:0002509",
          "GARD:0004503",
          "HP:0000590",
          "ICD10CM:H49.4",
          "ICD9:378.72",
          "MEDGEN:102439",
          "MESH:D017246",
          "NANDO:1200174",
          "Orphanet:520820",
          "SCTID:46252003",
          "UMLS:C0162674",
          "icd11.foundation:1698427219"
        ],
        "synonyms": [
          "chronic progressive external ophthalmoplegia [ambiguous]",
          "progressive external ophthalmoplegia",
          "chronic progressive external ophthalmoplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)"
      },
      "child_count": 12,
      "reference_id": "MONDO:0005181"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 10993,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722,
        17239
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009783"
    },
    {
      "id": 15071,
      "label": "mitochondrial DNA deletion syndrome with progressive myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722,
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111519",
          "GARD:0017518",
          "MEDGEN:767513",
          "OMIM:615156",
          "Orphanet:352470",
          "UMLS:C3554599"
        ],
        "synonyms": [
          "mitochondrial DNA deletion syndrome with limb-girdle weakness",
          "mtDNA deletion syndrome with limb-girdle weakness",
          "mtDNA deletion syndrome with progressive myopathy",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6",
          "PEOA6",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6",
          "progressive external ophthalmoplegia, autosomal dominant 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014062"
    },
    {
      "id": 15651,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722,
        18177
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014656"
    },
    {
      "id": 15878,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722,
        17239
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014898"
    },
    {
      "id": 15879,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111516",
          "GARD:0017501",
          "MEDGEN:934700",
          "OMIM:617070",
          "Orphanet:329314",
          "SCTID:733599009",
          "UMLS:C4310733"
        ],
        "synonyms": [
          "PEOB4",
          "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",
          "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4",
          "progressive external ophthalmoplegia, autosomal recessive 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014899"
    },
    {
      "id": 20226,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111524",
          "GARD:0025260",
          "MEDGEN:1648331",
          "OMIM:618098",
          "UMLS:C4748184"
        ],
        "synonyms": [
          "PEOB5",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",
          "progressive external ophthalmoplegia, autosomal recessive 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020845"
    },
    {
      "id": 25789,
      "label": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2722
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026904",
          "MEDGEN:1847098",
          "OMIM:620647",
          "UMLS:C5882731"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957993"
    }
  ],
  "roots": [
    {
      "id": 6902,
      "label": "progressive external ophthalmoplegia"
    }
  ]
}