{
  "id": 11924,
  "label": "Kearns-Sayre syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010787",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 21415,
      "label": "disorder of visual system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:128127008"
        ],
        "synonyms": [
          "disease of visual system",
          "disease or disorder of visual system",
          "disorder of visual system",
          "visual system disease",
          "visual system disease or disorder",
          "visual system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease that involves the visual system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0024458"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6902,
      "label": "progressive external ophthalmoplegia"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 21415,
      "label": "disorder of visual system"
    }
  ]
}