{
  "id": 9371,
  "label": "autosomal dominant centronuclear myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008048",
  "properties": {
    "xrefs": [
      "DOID:0111217",
      "DOID:0111223",
      "GARD:0012719",
      "MEDGEN:1645741",
      "NCIT:C126689",
      "OMIM:160150",
      "OMIM:614408",
      "Orphanet:169189",
      "SCTID:716696006",
      "UMLS:C4551952"
    ],
    "synonyms": [
      "AD-CNM",
      "CNM1",
      "autosomal dominant centronuclear myopathy",
      "autosomal dominant centronuclear myopathy caused by mutation in MYF6",
      "centronuclear myopathy 1",
      "centronuclear myopathy, autosomal dominant",
      "centronuclear myopathy, autosomal, modifier of",
      "myopathy, centronuclear, 1",
      "myopathy, centronuclear, 3",
      "myopathy, centronuclear, autosomal dominant",
      "myopathy, centronuclear, type 1",
      "myopathy, centronuclear, type 3",
      "myotubular myopathy, autosomal dominant",
      "CNM3",
      "DNM2-related centronuclear myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 4928,
      "label": "congenital structural myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:422",
          "GARD:0023302",
          "MEDGEN:156050",
          "MESH:D020914",
          "NANDO:1200482",
          "NANDO:2200867",
          "NCIT:C84648",
          "UMLS:C0752282"
        ],
        "synonyms": [
          "centronuclear myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills."
      },
      "child_count": 6,
      "reference_id": "MONDO:0002921"
    },
    {
      "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": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4928,
      "label": "congenital structural myopathy"
    },
    {
      "id": 18869,
      "label": "centronuclear myopathy"
    }
  ]
}