{
  "id": 18869,
  "label": "centronuclear myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018947",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    }
  ],
  "children": [
    {
      "id": 9371,
      "label": "autosomal dominant centronuclear myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        4928,
        18869
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008048"
    },
    {
      "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"
    },
    {
      "id": 14902,
      "label": "congenital myopathy with internal nuclei and atypical cores",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18869
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013890"
    },
    {
      "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"
    },
    {
      "id": 23582,
      "label": "myopathy, centronuclear, 6, with fiber-type disproportion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18869
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111221",
          "GARD:0016250",
          "MEDGEN:1627492",
          "OMIM:617760",
          "UMLS:C4540345"
        ],
        "synonyms": [
          "myopathy, centronuclear, 6, with fiber-type disproportion",
          "CNM6",
          "myopathy, centronuclear, 6, with FIBER-type disproportion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054695"
    }
  ],
  "roots": [
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}