{
  "id": 15879,
  "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014899",
  "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."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2722,
      "label": "progressive external ophthalmoplegia with mitochondrial DNA deletions"
    }
  ]
}