{
  "id": 6902,
  "label": "progressive external ophthalmoplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005181",
  "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)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 5353,
      "label": "ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3785,
        7990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:539",
          "ICD9:378.56",
          "MEDGEN:45205",
          "MESH:D009886",
          "SCTID:78097002",
          "UMLS:C0029089",
          "icd11.foundation:1848588735"
        ],
        "synonyms": [
          "oculomotor paralysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0003425"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "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": 11924,
      "label": "Kearns-Sayre syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6902,
        16878,
        16918,
        19748,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12934",
          "GARD:0006817",
          "ICD10CM:H49.81",
          "MEDGEN:9618",
          "MESH:D007625",
          "MedDRA:10048804",
          "NANDO:1201064",
          "NANDO:2200529",
          "NCIT:C84798",
          "NORD:1323",
          "OMIM:530000",
          "Orphanet:480",
          "SCTID:25792000",
          "UMLS:C0022541",
          "icd11.foundation:399100745"
        ],
        "synonyms": [
          "Kearns Sayre Syndrome",
          "Kearns-Sayre syndrome",
          "CPEO with myopathy",
          "CPEO with ragged red fibers",
          "CPEO with ragged red fibres",
          "CPEO with ragged-Red fibers",
          "CPEO with ragged-Red fibres",
          "KSS",
          "chronic progressive external ophthalmoplegia with myopathy",
          "mitochondrial Cytopathy",
          "oculocraniosomatic syndrome",
          "ophthalmoplegia plus syndrome",
          "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy",
          "ophthalmoplegia, progressive external, with ragged red fibers",
          "ophthalmoplegia, progressive external, with ragged red fibres",
          "ophthalmoplegia, progressive external, with ragged-Red fibers",
          "ophthalmoplegia, progressive external, with ragged-Red fibres",
          "ophthalmoplegia-plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010787"
    },
    {
      "id": 17239,
      "label": "autosomal recessive progressive external ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6902,
        7611
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016810"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 5353,
      "label": "ophthalmoplegia"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}