{
  "id": 16752,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of dystrophin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016147",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 11697,
      "label": "dilated cardiomyopathy 3B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16752,
        24270,
        24709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060561",
          "DOID:0081164",
          "DOID:0110461",
          "GARD:0015287",
          "ICD9:425.4",
          "MEDGEN:777148",
          "MESH:C580047",
          "OMIM:302045",
          "SCTID:702424003",
          "UMLS:C3668940"
        ],
        "synonyms": [
          "CMD3B",
          "DMD dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 3B",
          "dilated cardiomyopathy 3B",
          "dilated cardiomyopathy caused by mutation in DMD",
          "dilated cardiomyopathy type 3B",
          "DMD-related dilated cardiomyopathy",
          "X-linked dilated cardiomyopathy",
          "cardiomyopathy, dilated, 3B",
          "cardiomyopathy, dilated, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010542"
    },
    {
      "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": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    }
  ]
}