{
  "id": 16751,
  "label": "caveolinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016146",
  "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"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 5798,
      "label": "muscle tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080000",
          "DOID:66",
          "ICD10CM:M60-M63",
          "MESH:D009135"
        ],
        "synonyms": [
          "disease of muscle organ",
          "disease of muscle tissue",
          "disease or disorder of muscle organ",
          "disease or disorder of muscle tissue",
          "disorder of muscle organ",
          "disorder of muscle tissue",
          "muscle organ disease",
          "muscle organ disease or disorder",
          "muscle tissue disease",
          "muscle tissue disease or disorder",
          "muscular disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the muscle tissue."
      },
      "child_count": 13,
      "reference_id": "MONDO:0003939"
    },
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 16730,
      "label": "isolated asymptomatic elevation of creatine phosphokinase",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16751,
        16752
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016103"
    }
  ],
  "roots": [
    {
      "id": 5798,
      "label": "muscle tissue disorder"
    },
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}