{
  "id": 22916,
  "label": "symptomatic form of X-linked centronuclear myopathy in female carriers",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035826",
  "properties": {
    "xrefs": [
      "GARD:0022439",
      "MEDGEN:1842761",
      "Orphanet:604680",
      "UMLS:C5680221"
    ],
    "synonyms": [
      "Symptomatic form of X-linked myotubular myopathy in female carriers",
      "Symptomatic form of XLCNM in female carriers",
      "Symptomatic form of XLMTM in female carriers"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11827,
      "label": "X-linked myotubular myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        18869
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111225",
          "GARD:0011925",
          "ICD10CM:G71.220",
          "MEDGEN:98374",
          "NCIT:C118781",
          "OMIM:310400",
          "Orphanet:596",
          "SCTID:46804001",
          "UMLS:C0410203"
        ],
        "synonyms": [
          "MTM",
          "X-linked centronuclear myopathy",
          "X-linked myotubular myopathy",
          "XLCNM",
          "XLMTM",
          "centronuclear myopathy, X-linked",
          "myotubular myopathy, X-linked, X-linked recessive",
          "CNMX",
          "myopathy, centronuclear, X-linked",
          "myotubular myopathy 1",
          "myotubular myopathy, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010683"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11827,
      "label": "X-linked myotubular myopathy"
    }
  ]
}