{
  "id": 18339,
  "label": "childhood-onset autosomal recessive myopathy with external ophthalmoplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018206",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 12673,
      "label": "myopathy, proximal, and ophthalmoplegia"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy"
    }
  ]
}