{
  "id": 11827,
  "label": "X-linked myotubular myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010683",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": [
    {
      "id": 11445,
      "label": "X-linked myotubular myopathy-abnormal genitalia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        11827,
        17410,
        19710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017792",
          "MEDGEN:335354",
          "MESH:C564561",
          "OMIM:300219",
          "Orphanet:456328",
          "UMLS:C1846169"
        ],
        "synonyms": [
          "Xq28 contiguous gene deletion syndrome",
          "myotubular myopathy with abnormal genital development"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010271"
    },
    {
      "id": 22916,
      "label": "symptomatic form of X-linked centronuclear myopathy in female carriers",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022439",
          "MEDGEN:1842761",
          "Orphanet:604680",
          "UMLS:C5680221"
        ],
        "synonyms": [
          "Symptomatic form of X-linked myotubular myopathy in female carriers",
          "Symptomatic form of XLCNM in female carriers",
          "Symptomatic form of XLMTM in female carriers"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035826"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 18869,
      "label": "centronuclear myopathy"
    }
  ]
}