{
  "id": 9329,
  "label": "autosomal dominant progressive external ophthalmoplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008003",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    }
  ],
  "children": [
    {
      "id": 13297,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111517",
          "GARD:0016498",
          "MEDGEN:322925",
          "MESH:C563750",
          "OMIM:609283",
          "UMLS:C1836460"
        ],
        "synonyms": [
          "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2",
          "PEOA2",
          "progressive external ophthalmoplegia, autosomal dominant 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 SLC25A4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012238"
    },
    {
      "id": 13300,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111520",
          "GARD:0016499",
          "MEDGEN:373087",
          "MESH:C563747",
          "OMIM:609286",
          "UMLS:C1836439"
        ],
        "synonyms": [
          "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3",
          "PEOA3",
          "progressive external ophthalmoplegia, autosomal dominant 3"
        ],
        "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 TWNK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012241"
    },
    {
      "id": 13466,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111525",
          "GARD:0016500",
          "MEDGEN:350480",
          "MESH:C566437",
          "OMIM:610131",
          "UMLS:C1864668"
        ],
        "synonyms": [
          "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4",
          "PEOA4",
          "progressive external ophthalmoplegia, autosomal dominant 4"
        ],
        "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 POLG2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012415"
    },
    {
      "id": 14155,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111518",
          "GARD:0016501",
          "MEDGEN:413981",
          "MESH:C567768",
          "OMIM:613077",
          "UMLS:C2751319"
        ],
        "synonyms": [
          "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5",
          "PEOA5",
          "progressive external ophthalmoplegia, autosomal dominant 5"
        ],
        "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 RRM2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013117"
    },
    {
      "id": 21474,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111521",
          "GARD:0013174",
          "MEDGEN:371919",
          "OMIM:157640",
          "UMLS:C1834846"
        ],
        "synonyms": [
          "PEOA1",
          "POLG autosomal dominant progressive external ophthalmoplegia",
          "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG",
          "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",
          "progressive external ophthalmoplegia, autosomal dominant 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024528"
    }
  ],
  "roots": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions"
    },
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    }
  ]
}