{
  "id": 3159,
  "label": "myopathy, lactic acidosis, and sideroblastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000863",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3000,
      "label": "congenital anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022807",
          "MEDGEN:102361",
          "NCIT:C35228",
          "SCTID:63565007",
          "UMLS:C0158995"
        ],
        "synonyms": [
          "congenital anaemia (disease)",
          "congenital anemia",
          "congenital anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia, the cause of which is present at birth."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000577"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "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": 19734,
      "label": "inherited sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019453",
          "MEDGEN:65119",
          "NANDO:1200892",
          "OMIMPS:300751",
          "Orphanet:98362",
          "UMLS:C0221018",
          "icd11.foundation:789053868"
        ],
        "synonyms": [
          "constitutional sideroblastic anaemia",
          "constitutional sideroblastic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0020099"
    }
  ],
  "children": [
    {
      "id": 11920,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3159
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111184",
          "GARD:0015312",
          "MEDGEN:903059",
          "OMIM:500011",
          "UMLS:C4225415"
        ],
        "synonyms": [
          "myopathy, lactic acidosis, and sideroblastic anaemia type 3",
          "myopathy, lactic acidosis, and sideroblastic anemia 3",
          "myopathy, lactic acidosis, and sideroblastic anemia type 3",
          "MLASA3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010782"
    },
    {
      "id": 14342,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3159
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111186",
          "GARD:0015676",
          "MEDGEN:462152",
          "OMIM:613561",
          "UMLS:C3150802"
        ],
        "synonyms": [
          "YARS2 mitochondrial myopathy and sideroblastic anaemia",
          "YARS2 mitochondrial myopathy and sideroblastic anemia",
          "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2",
          "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2",
          "myopathy, lactic acidosis, and sideroblastic Anaemia type 2",
          "myopathy, lactic acidosis, and sideroblastic Anemia type 2",
          "myopathy, lactic acidosis, and sideroblastic anemia 2",
          "MLASA2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013307"
    },
    {
      "id": 21498,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3159
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024553"
    }
  ],
  "roots": [
    {
      "id": 3000,
      "label": "congenital anemia"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19734,
      "label": "inherited sideroblastic anemia"
    }
  ]
}