{
  "id": 24723,
  "label": "ACTN2-related cardiac and skeletal myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700349",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    },
    {
      "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": [
    {
      "id": 13848,
      "label": "dilated cardiomyopathy 1AA",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24709,
        24723
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110428",
          "GARD:0015543",
          "MEDGEN:393713",
          "MESH:C567407",
          "OMIM:612158",
          "UMLS:C2677338"
        ],
        "synonyms": [
          "ACTN2 familial isolated dilated cardiomyopathy",
          "CMD1AA",
          "cardiomyopathy, dilated, 1AA, with or without LVNC",
          "cardiomyopathy, hypertrophic, 23, with or without LVNC",
          "dilated cardiomyopathy type 1AA",
          "familial isolated dilated cardiomyopathy caused by mutation in ACTN2",
          "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction",
          "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012808"
    },
    {
      "id": 22506,
      "label": "myopathy, congenital, with structured cores and z-line abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669,
        24723
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032852"
    },
    {
      "id": 22507,
      "label": "myopathy, distal, 6, adult-onset, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24723
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027946",
          "MEDGEN:1684760",
          "OMIM:618655",
          "UMLS:C5203349"
        ],
        "synonyms": [
          "myopathy, distal, 6, adult onset",
          "MPD6",
          "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032853"
    }
  ],
  "roots": [
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}