{
  "id": 16730,
  "label": "isolated asymptomatic elevation of creatine phosphokinase",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016103",
  "properties": {
    "xrefs": [
      "DOID:0111338",
      "GARD:0020356",
      "MEDGEN:1668524",
      "NCIT:C148327",
      "Orphanet:206599",
      "UMLS:C4751434"
    ],
    "synonyms": [
      "hyperCKmia",
      "idiopathic asymptomatic hyperCKemia",
      "isolated asymptomatic hyperCKemia",
      "isolated hyperCKemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16751,
      "label": "caveolinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020394",
          "MEDGEN:1826055",
          "Orphanet:207078",
          "UMLS:C5679790"
        ],
        "synonyms": [
          "qualitative or quantitative defects of caveolin-3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals"
      },
      "child_count": 3,
      "reference_id": "MONDO:0016146"
    },
    {
      "id": 16752,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dystrophin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002031",
          "MEDGEN:1826053",
          "NANDO:1200487",
          "Orphanet:207085",
          "UMLS:C5679787"
        ],
        "synonyms": [
          "dystrophinopathy",
          "qualitative or quantitative defects of dystrophin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16751,
      "label": "caveolinopathy"
    },
    {
      "id": 16752,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dystrophin"
    }
  ]
}