{
  "id": 16469,
  "label": "autosomal recessive centronuclear myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015705",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    },
    {
      "id": 24219,
      "label": "autosomal recessive titinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        23917
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026246"
        ],
        "synonyms": [
          "TTN-related myopathy, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of TTN-related myopathy."
      },
      "child_count": 14,
      "reference_id": "MONDO:0100493"
    }
  ],
  "children": [
    {
      "id": 10922,
      "label": "myopathy, centronuclear, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111220",
          "GARD:0015208",
          "MEDGEN:98049",
          "MESH:C562934",
          "OMIM:255200",
          "UMLS:C0410204"
        ],
        "synonyms": [
          "BIN1 centronuclear myopathy",
          "centronuclear myopathy caused by mutation in BIN1",
          "myopathy, centronuclear, 2",
          "myopathy, centronuclear, type 2",
          "CNM2",
          "myopathy, centronuclear, autosomal recessive",
          "myotubular myopathy, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009709"
    },
    {
      "id": 15420,
      "label": "myopathy, centronuclear, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16469
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014418"
    }
  ],
  "roots": [
    {
      "id": 18869,
      "label": "centronuclear myopathy"
    },
    {
      "id": 24219,
      "label": "autosomal recessive titinopathy"
    }
  ]
}