{
  "id": 10318,
  "label": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009069",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 10936,
      "label": "Leigh syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918,
        19748
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009723"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 10936,
      "label": "Leigh syndrome"
    }
  ]
}