{
  "id": 10936,
  "label": "Leigh syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009723",
  "properties": {
    "xrefs": [
      "DOID:3652",
      "GARD:0006877",
      "ICD10CM:G31.82",
      "ICD9:330.8",
      "MEDGEN:419518",
      "MESH:D007888",
      "MedDRA:10062950",
      "NANDO:1200175",
      "NANDO:2200527",
      "NCIT:C84814",
      "NORD:1355",
      "OMIM:256000",
      "Orphanet:506",
      "SCTID:29570005",
      "UMLS:C2931891",
      "icd11.foundation:672871576"
    ],
    "synonyms": [
      "LS",
      "LSS",
      "Leigh disease",
      "Leigh syndrome",
      "Leigh syndrome spectrum",
      "Leigh's disease",
      "infantile subacute necrotizing encephalopathy",
      "Leigh syndrome due to mitochondrial Complex 1 deficiency",
      "Leigh syndrome due to mitochondrial Complex 2 deficiency",
      "Leigh syndrome due to mitochondrial Complex 3 deficiency",
      "Leigh syndrome due to mitochondrial Complex 4 deficiency",
      "Leigh syndrome due to mitochondrial Complex 5 deficiency",
      "Leigh's necrotizing encephalopathy",
      "SNE",
      "necrotizing encephalopathy, infantile Subacute, of Leigh",
      "subacute necrotizing encephalopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 9391,
      "label": "necrotizing encephalomyelopathy, subacute, of Leigh, adult",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10936,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024598",
          "MEDGEN:331718",
          "MESH:C563530",
          "OMIM:161700",
          "UMLS:C1834340"
        ],
        "synonyms": [
          "necrotizing encephalomyelopathy, subacute, of Leigh, adult",
          "Leigh syndrome, adult"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008069"
    },
    {
      "id": 10318,
      "label": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        10936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111180",
          "GARD:0008370",
          "MEDGEN:387801",
          "MESH:C537004",
          "OMIM:220111",
          "Orphanet:70472",
          "SCTID:718219002",
          "UMLS:C1857355"
        ],
        "synonyms": [
          "COX deficiency, French-Canadian type",
          "Leigh syndrome, French-Canadian type",
          "Leigh syndrome, Saguenay-Lac-Saint-Jean type",
          "SLSJ-COX deficiency",
          "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
          "cytochrome C oxidase deficiency, French-Canadian type",
          "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type",
          "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)",
          "Cox deficiency, French Canadian type",
          "Cox deficiency, Saguenay Lac saint Jean type",
          "Cox deficiency, Saguenay-Lac-Saint-Jean type",
          "LSFC",
          "Leigh syndrome, French Canadian type",
          "Leigh syndrome, Saguenay Lac saint Jean type",
          "cytochrome C oxidase deficiency, French Canadian type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009069"
    },
    {
      "id": 17242,
      "label": "maternally-inherited Leigh syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003671",
          "MEDGEN:443976",
          "MESH:C536035",
          "Orphanet:255210",
          "SCTID:717052002",
          "UMLS:C2931092"
        ],
        "synonyms": [
          "MILS",
          "maternally-inherited Leigh disease",
          "maternally-inherited infantile subacute necrotizing encephalopathy",
          "Leigh disease, maternally inherited",
          "Subacute necrotizing encephalomyelopathy maternally inherited",
          "maternally inherited Leigh syndrome",
          "mitochondrial DNA-associated Leigh syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016814"
    },
    {
      "id": 18974,
      "label": "Leigh syndrome with cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016685",
          "Orphanet:70474",
          "icd11.foundation:583594497"
        ],
        "synonyms": [
          "Leigh disease with myopathy",
          "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency",
          "cardiomyopathy with myopathy due to COX deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019083"
    }
  ],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}