{
  "id": 19746,
  "label": "metabolic myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020123",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    }
  ],
  "children": [
    {
      "id": 10726,
      "label": "metabolic myopathy due to lactate transporter defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19746,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017067",
          "MEDGEN:344529",
          "MESH:C565449",
          "OMIM:245340",
          "Orphanet:171690",
          "SCTID:766715000",
          "UMLS:C1855577"
        ],
        "synonyms": [
          "erythrocyte lactate transporter defect",
          "lactate transporter defect, myopathy due to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009501"
    },
    {
      "id": 10919,
      "label": "hereditary myopathy with lactic acidosis due to ISCU deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19746,
        23488,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009706"
    },
    {
      "id": 15531,
      "label": "autosomal dominant mitochondrial myopathy with exercise intolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10856,
        16918,
        19746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081357",
          "GARD:0017794",
          "MEDGEN:863950",
          "OMIM:616209",
          "Orphanet:457050",
          "UMLS:C4015513"
        ],
        "synonyms": [
          "IMMD",
          "myopathy, isolated mitochondrial, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014532"
    },
    {
      "id": 24357,
      "label": "endocrine myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:E34.9",
          "SCTID:57958006"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A metabolic myopathy associated with an endocrine disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100638"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    }
  ]
}