{
  "id": 22506,
  "label": "myopathy, congenital, with structured cores and z-line abnormalities",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032852",
  "properties": {
    "xrefs": [
      "DOID:0081342",
      "GARD:0025759",
      "MEDGEN:1684705",
      "OMIM:618654",
      "UMLS:C5231445"
    ],
    "synonyms": [
      "myopathy, congenital with structured cores and z-line abnormalities",
      "MYOCOZ",
      "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES",
      "Multiple Structured Core Disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    },
    {
      "id": 24723,
      "label": "ACTN2-related cardiac and skeletal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24272,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028023"
        ],
        "synonyms": [
          "ACTN2 familial isolated dilated cardiomyopathy",
          "CMD1AA",
          "cardiomyopathy, dilated, 1AA, with or without LVNC",
          "cardiomyopathy, hypertrophic, 23, with or without LVNC",
          "dilated cardiomyopathy 1AA with or without left ventricular noncompaction",
          "dilated cardiomyopathy type 1AA",
          "familial isolated dilated cardiomyopathy caused by mutation in ACTN2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700349"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19669,
      "label": "congenital myopathy"
    },
    {
      "id": 24723,
      "label": "ACTN2-related cardiac and skeletal myopathy"
    }
  ]
}