{
  "id": 21498,
  "label": "myopathy, lactic acidosis, and sideroblastic anemia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024553",
  "properties": {
    "xrefs": [
      "DOID:0111185",
      "GARD:0025428",
      "MEDGEN:1634824",
      "OMIM:600462",
      "UMLS:C4551958"
    ],
    "synonyms": [
      "PUS1 myopathy, lactic acidosis, and sideroblastic anaemia",
      "PUS1 myopathy, lactic acidosis, and sideroblastic anemia",
      "myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1",
      "myopathy, lactic acidosis, and sideroblastic anemia 1",
      "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1",
      "MLASA1",
      "mitochondrial myopathy and sideroblastic anaemia",
      "mitochondrial myopathy and sideroblastic anemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3159,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        10856,
        16918,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080099",
          "GARD:0003885",
          "MEDGEN:373888",
          "MESH:C536101",
          "OMIMPS:600462",
          "Orphanet:2598",
          "SCTID:724138007",
          "UMLS:C1838103",
          "icd11.foundation:678852156"
        ],
        "synonyms": [
          "MLASA",
          "MSA",
          "mitochondrial myopathy and sideroblastic anaemia",
          "mitochondrial myopathy and sideroblastic anemia",
          "myopathy, lactic acidosis and sideroblastic anaemia",
          "myopathy, lactic acidosis and sideroblastic anemia",
          "myopathy, lactic acidosis, and siderblastic anaemia",
          "myopathy, lactic acidosis, and siderblastic anemia",
          "myopathy with lactic acidosis and sideroblastic anaemia",
          "myopathy with lactic acidosis and sideroblastic anemia",
          "sideroblastic anaemia and mitochondrial myopathy",
          "sideroblastic anemia and mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000863"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3159,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia"
    }
  ]
}