{
  "id": 19065,
  "label": "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019195",
  "properties": {
    "xrefs": [
      "GARD:0009494",
      "MEDGEN:1382737",
      "Orphanet:79091",
      "SCTID:724349009",
      "UMLS:C4510610"
    ],
    "synonyms": [
      "HIBM3",
      "IBM3",
      "hereditary inclusion body myopathy type 3",
      "inclusion body myopathy type 3",
      "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia",
      "Hereditary inclusion body myopathy type 3",
      "Inclusion body myopathy autosomal dominant",
      "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 12673,
      "label": "myopathy, proximal, and ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9164,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080719",
          "GARD:0024809",
          "MEDGEN:381340",
          "MESH:C565311",
          "OMIM:605637",
          "UMLS:C1854106"
        ],
        "synonyms": [
          "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles",
          "myopathy, proximal, and ophthalmoplegia",
          "MYPOP",
          "inclusion body myopathy 3, autosomal dominant",
          "inclusion body myopathy 3, autosomal dominant, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011577"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020364",
          "MEDGEN:1843174",
          "Orphanet:206662",
          "UMLS:C5680794"
        ],
        "synonyms": [
          "inclusion myopathy",
          "cytoplasmic body myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0016112"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 12673,
      "label": "myopathy, proximal, and ophthalmoplegia"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy"
    }
  ]
}