{
  "id": 10925,
  "label": "congenital multicore myopathy with external ophthalmoplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009712",
  "properties": {
    "xrefs": [
      "GARD:0010316",
      "MEDGEN:340597",
      "NANDO:2200872",
      "NCIT:C150608",
      "OMIM:255320",
      "Orphanet:98905",
      "UMLS:C1850674"
    ],
    "synonyms": [
      "minicore myopathy, antenatal onset, with arthrogryposis",
      "minicore myopathy",
      "minicore myopathy with external ophthalmoplegia",
      "multicore myopathy",
      "multicore myopathy with external ophthalmoplegia",
      "multiminicore disease with external ophthalmoplegia",
      "multiminicore myopathy multicore myopathy with external ophthalmoplegia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18870,
      "label": "multiminicore myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16783,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080991",
          "GARD:0016536",
          "MEDGEN:75731",
          "NANDO:1200480",
          "NANDO:2200871",
          "Orphanet:598",
          "SCTID:55133004",
          "UMLS:C0270962"
        ],
        "synonyms": [
          "MmD",
          "multicore disease",
          "multicore myopathy",
          "multiminicore disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018948"
    },
    {
      "id": 23892,
      "label": "RYR1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19001,
        19669,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026064",
          "Orphanet:98742"
        ],
        "synonyms": [
          "RYR1-related disease",
          "RYR1-related disorder",
          "RYR1-related myopathy",
          "neurological muscular channelopathy due to a genetic ryanodine receptor defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100150"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18870,
      "label": "multiminicore myopathy"
    },
    {
      "id": 23892,
      "label": "RYR1-related myopathy"
    }
  ]
}