{
  "id": 17242,
  "label": "maternally-inherited Leigh syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016814",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 10936,
      "label": "Leigh syndrome"
    }
  ]
}