{
  "id": 14902,
  "label": "congenital myopathy with internal nuclei and atypical cores",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013890",
  "properties": {
    "xrefs": [
      "DOID:0111224",
      "GARD:0017443",
      "MEDGEN:1642424",
      "OMIM:614807",
      "Orphanet:319160",
      "SCTID:764945007",
      "UMLS:C4707232"
    ],
    "synonyms": [
      "CNM4",
      "centronuclear myopathy type 4",
      "myopathy, centronuclear, type 4",
      "myopathy, centronuclear, 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18869,
      "label": "centronuclear myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14717",
          "GARD:0000101",
          "ICD10CM:G71.22",
          "MEDGEN:104495",
          "NANDO:1200481",
          "NANDO:1200482",
          "NANDO:2200867",
          "NORD:909",
          "OMIMPS:160150",
          "Orphanet:595",
          "SCTID:82077006",
          "UMLS:C0175709",
          "icd11.foundation:742097637"
        ],
        "synonyms": [
          "CNM",
          "centronuclear myopathy",
          "myopathy, centronuclear",
          "myopathy, myotubular"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018947"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18869,
      "label": "centronuclear myopathy"
    }
  ]
}