{
  "id": 10924,
  "label": "congenital fiber-type disproportion myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009711",
  "properties": {
    "xrefs": [
      "DOID:0080102",
      "GARD:0006161",
      "MEDGEN:108177",
      "NANDO:1200483",
      "NANDO:2200868",
      "NCIT:C120046",
      "Orphanet:2020",
      "UMLS:C0546264"
    ],
    "synonyms": [
      "CFTDM",
      "congenital fiber-type disproportion",
      "congenital myopathy with fiber type disproportion",
      "congenital myopathy with fibre type disproportion",
      "congenital fiber type disproportion",
      "congenital fibre type disproportion",
      "myopathy, congenital with fiber-type disproportion"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 11531,
      "label": "myopathy, congenital, with fiber-type disproportion, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111226",
          "GARD:0015258",
          "MEDGEN:440714",
          "MESH:C567594",
          "OMIM:300580",
          "UMLS:C2749128"
        ],
        "synonyms": [
          "CFTDX",
          "myopathy, congenital, with fiber-type disproportion, X-linked",
          "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010365"
    }
  ],
  "roots": [
    {
      "id": 4928,
      "label": "congenital structural myopathy"
    }
  ]
}