{
  "id": 6459,
  "label": "mitochondrial encephalomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004675",
  "properties": {
    "xrefs": [
      "DOID:890",
      "GARD:0024084",
      "ICD9:277.87",
      "MEDGEN:57960",
      "MESH:D017237",
      "SCTID:447292006",
      "UMLS:C0162666"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 11926,
      "label": "MELAS syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6459
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3687",
          "GARD:0007009",
          "ICD10CM:E88.41",
          "ICD9:277.87",
          "MEDGEN:56485",
          "MESH:D017241",
          "MedDRA:10053872",
          "NANDO:1200176",
          "NANDO:2200525",
          "NCIT:C84885",
          "OMIM:540000",
          "Orphanet:550",
          "SCTID:39925003",
          "UMLS:C0162671"
        ],
        "synonyms": [
          "MELAS syndrome",
          "mitochondrial encephalomyopathy, lactic acidosis and stroke",
          "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes",
          "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes",
          "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes",
          "MELAS",
          "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations."
      },
      "child_count": 20,
      "reference_id": "MONDO:0010789"
    },
    {
      "id": 11927,
      "label": "MERRF syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        6459,
        19726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:310",
          "GARD:0007144",
          "ICD10CM:E88.42",
          "ICD9:277.87",
          "MEDGEN:56486",
          "MESH:D017243",
          "MedDRA:10069825",
          "NANDO:1200177",
          "NANDO:2200526",
          "NCIT:C84889",
          "NORD:1441",
          "OMIM:545000",
          "Orphanet:551",
          "SCTID:68448003",
          "UMLS:C0162672"
        ],
        "synonyms": [
          "Fukuhara syndrome",
          "MERRF",
          "MERRF syndrome",
          "myoclonic epilepsy - ragged red fibres",
          "myoclonus epilepsy and ragged red fibres",
          "myoclonus epilepsy associated with ragged-red fibers",
          "myoclonus epilepsy associated with ragged-red fibres",
          "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)",
          "myoclonus with epilepsy and with ragged Red fibres",
          "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)",
          "myoclonic epilepsy associated with ragged red fibers",
          "myoclonic epilepsy associated with ragged red fibres",
          "myoclonic epilepsy associated with ragged-RED fibers",
          "myoclonic epilepsy associated with ragged-RED fibres",
          "myoclonic epilepsy with ragged red fibers",
          "myoclonic epilepsy with ragged red fibres",
          "myoencephalopathy ragged-red fiber disease",
          "myoencephalopathy ragged-red fibre disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010790"
    }
  ],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    }
  ]
}