{
  "id": 10919,
  "label": "hereditary myopathy with lactic acidosis due to ISCU deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009706",
  "properties": {
    "xrefs": [
      "GARD:0016643",
      "ICD9:259.8",
      "MEDGEN:342573",
      "MESH:C564972",
      "OMIM:255125",
      "Orphanet:43115",
      "SCTID:699268002",
      "UMLS:C1850718"
    ],
    "synonyms": [
      "ISCU myopathy",
      "aconitase deficiency",
      "iron-sulfur cluster deficiency myopathy",
      "myopathy with exercise intolerance, Swedish type",
      "HML",
      "myoglobinuria due to abnormal glycolysis",
      "myopathy with deficiency of succinate dehydrogenase and aconitase",
      "myopathy with lactic acidosis, hereditary"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19746,
      "label": "metabolic myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019472",
          "ICD9:359.89",
          "MEDGEN:452364",
          "MedDRA:10068836",
          "NCIT:C98985",
          "Orphanet:98486",
          "SCTID:26111005",
          "UMLS:C0270984"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020123"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027984",
          "MEDGEN:155901",
          "NANDO:1200173",
          "NANDO:2100163",
          "UMLS:C0751651"
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0044970"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19746,
      "label": "metabolic myopathy"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}