{
  "id": 15420,
  "label": "myopathy, centronuclear, 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014418",
  "properties": {
    "xrefs": [
      "DOID:0111222",
      "GARD:0016035",
      "MEDGEN:863251",
      "OMIM:615959",
      "UMLS:C4014814"
    ],
    "synonyms": [
      "SPEG autosomal recessive centronuclear myopathy",
      "autosomal recessive centronuclear myopathy caused by mutation in SPEG",
      "myopathy, centronuclear, 5",
      "myopathy, centronuclear, type 5",
      "CNM5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16469,
      "label": "autosomal recessive centronuclear myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18869,
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111216",
          "GARD:0012718",
          "MEDGEN:771131",
          "Orphanet:169186",
          "SCTID:240081004",
          "UMLS:C3645536",
          "icd11.foundation:1844602815"
        ],
        "synonyms": [
          "AR-CNM",
          "centronuclear myopathy, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015705"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16469,
      "label": "autosomal recessive centronuclear myopathy"
    }
  ]
}