{
  "id": 24791,
  "label": "MELAS syndrome caused by mutation in MTTS1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800037",
  "properties": {
    "xrefs": [
      "GARD:0026420"
    ],
    "synonyms": [
      "MTTS1 MELAS syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11926,
      "label": "MELAS syndrome"
    }
  ]
}