{
  "id": 11445,
  "label": "X-linked myotubular myopathy-abnormal genitalia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010271",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 17410,
      "label": "partial deletion of the long arm of chromosome X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17408
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826028",
          "Orphanet:263756",
          "UMLS:C5679688"
        ],
        "synonyms": [
          "partial deletion of chromosome Xq",
          "partial deletion of the long arm of chromosome type X",
          "partial monosomy of chromosome Xq",
          "partial monosomy of the long arm of chromosome X"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017007"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 11827,
      "label": "X-linked myotubular myopathy"
    },
    {
      "id": 17410,
      "label": "partial deletion of the long arm of chromosome X"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}