{
  "id": 17239,
  "label": "autosomal recessive progressive external ophthalmoplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016810",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [
    {
      "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": 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"
    }
  ],
  "roots": [
    {
      "id": 6902,
      "label": "progressive external ophthalmoplegia"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}