{
  "id": 12673,
  "label": "myopathy, proximal, and ophthalmoplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011577",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 9164,
      "label": "inclusion body myositis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3429",
          "EFO:0007323",
          "GARD:0003896",
          "ICD10CM:G72.41",
          "ICD9:359.71",
          "ICD9:729.1",
          "MEDGEN:68659",
          "MESH:D018979",
          "MedDRA:10066407",
          "NANDO:1200032",
          "NANDO:1200218",
          "NCIT:C84786",
          "NORD:1734",
          "OMIM:147421",
          "Orphanet:611",
          "SCTID:72315009",
          "UMLS:C0238190"
        ],
        "synonyms": [
          "IBM",
          "Sporadic Inclusion Body Myositis",
          "inclusion body myositis",
          "sIBM",
          "sporadic inclusion body myositis",
          "Ibm",
          "inflammatory myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features."
      },
      "child_count": 2,
      "reference_id": "MONDO:0007827"
    },
    {
      "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": 18339,
      "label": "childhood-onset autosomal recessive myopathy with external ophthalmoplegia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        12673,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017568",
          "MEDGEN:1673410",
          "Orphanet:363677",
          "UMLS:C5192594"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018206"
    },
    {
      "id": 19065,
      "label": "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        12673,
        16735
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019195"
    }
  ],
  "roots": [
    {
      "id": 9164,
      "label": "inclusion body myositis"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}